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05932nam a22005535i 4500 |
| 001 - CONTROL NUMBER |
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978-3-211-69500-5 |
| 003 - CONTROL NUMBER IDENTIFIER |
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DE-He213 |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
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| control field |
20161121230845.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION |
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cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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100301s2008 au | s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| International Standard Book Number |
9783211695005 |
| -- |
978-3-211-69500-5 |
| 024 7# - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
10.1007/978-3-211-69500-5 |
| Source of number or code |
doi |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER |
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| Classification number |
RC346-429.2 |
| 072 #7 - SUBJECT CATEGORY CODE |
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| Subject category code |
MJN |
| Source |
bicssc |
| 072 #7 - SUBJECT CATEGORY CODE |
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| Subject category code |
MED056000 |
| Source |
bisacsh |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
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| Classification number |
616.8 |
| Edition number |
23 |
| 245 10 - TITLE STATEMENT |
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| Title |
Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes |
| Medium |
[electronic resource] / |
| Statement of responsibility, etc. |
edited by Martino Ruggieri, Ignacio Pascual-Castroviejo, Concezio Di Rocco. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE |
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| Place of production, publication, distribution, manufacture |
Vienna : |
| Name of producer, publisher, distributor, manufacturer |
Springer Vienna, |
| Date of production, publication, distribution, manufacture, or copyright notice |
2008. |
| 300 ## - PHYSICAL DESCRIPTION |
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| Extent |
XXI, 1070 p. 457 illus., 234 illus. in color. |
| Other physical details |
online resource. |
| 336 ## - CONTENT TYPE |
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| Content type term |
text |
| Content type code |
txt |
| Source |
rdacontent |
| 337 ## - MEDIA TYPE |
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| Media type term |
computer |
| Media type code |
c |
| Source |
rdamedia |
| 338 ## - CARRIER TYPE |
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| Carrier type term |
online resource |
| Carrier type code |
cr |
| Source |
rdacarrier |
| 347 ## - DIGITAL FILE CHARACTERISTICS |
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| File type |
text file |
| Encoding format |
PDF |
| Source |
rda |
| 505 0# - FORMATTED CONTENTS NOTE |
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| Formatted contents note |
Embryology of Neurocutaneous Syndromes -- Vascular Birthmarks of Infancy: Phace Association (Pascual-Castroviejo Type II Syndrome) and Cobb Syndrome -- Neurofibromatosis type 1 & Related Disorders -- Neurofibromatosis type 2 and related disorders -- The Tuberous Sclerosis Complex -- Von Hippel-Lindau Disease -- Klippel-Tranaunay, Parkes Weber and Sturge-Weber Syndromes (Including Kasabach-Merrit Phenomena) -- Klippel-Trenaunay Syndrome -- Parkes Weber Syndrome -- Sturge-Weber Syndrome -- Osler-Weber-Rendu syndrome (Hereditary Hemorrhagic Telangiectasia) -- Macrocephaly-Cutis Marmorata Telangiectatica Congenita (Macrocephaly-Capillary Malformation) -- Blue Rubber Bleb Nevus Syndrome (Brbns) -- Wyburn-Mason Syndrome -- Maffucci Syndrome -- Hypomelanosis of Ito and Related Disorders (Pigmentary Mosaicism) -- Phylloid Hypomelanosis -- Incontinentia Pigmenti -- Silver Hair Syndromes: Chediak-Higashi Syndrome (CHS) and Griscelli Syndromes (GS) -- Leopard Syndrome -- Nevus of OTA -- Phacomatosis Pigmentokeratotica -- Phakomatosis Pigmentovascularis -- Speckled Lentiginous Nevus Syndrome -- Cutis Tricolor (Ruggieri-Happle Syndrome) -- Neurocutaneous Melanosis -- Genetics of Pten Hamartoma Tumor Syndrome (PHTS) -- Lhermitte-Duclos and Cowden Disease Complex -- Bannayan-Riley-Ruvalcaba Syndrome -- Encephalocraniocutaneous Lipomatosis (Haberland Syndrome) -- Proteus Syndrome -- Epidermal Nevus Syndromes -- Schimmelpenning-Feuerstein-Mims Syndrome (Nevus Sebaceous Syndrome) -- Inflammatory Linear Verrucous Epidermal Nevus (Ilven) -- Nevus Comedonicus Syndrome -- Becker’s Nevus Syndrome (Pigmentary Hairy Epidermal Nevus) -- Child Syndrome -- Chondrodysplasia Punctata (Cdp) Conradi-Hunermann-Happle Type (Cdpx2) -- SjÖgren-Larsson Syndrome -- Kid Syndrome (Keratitis-Ichthyosis-Deafness) -- Papillon-Lefèvre Syndrome (PLS) -- Richner-Hanhart Syndrome (Tyrosine Transaminase Deficiency) -- Darier’s Disease -- Dyskeratosis Congenita -- Nevoid Basal Cell Carcinoma (Gorlin) Syndrome -- Multiple Endocrine Neoplasia Type 2B -- Turcot Syndrome -- Degos’ Disease (Malignant Atrophic Papulosis) -- Ataxia-Telangiectasia -- Nijmegen Breakage Syndrome -- Xeroderma Pigmentosum -- Cockayne Syndrome -- Trichothiodystrophy -- Progeria and Progeroid Syndromes (Premature Ageing Disorders) -- Focal Dermal Hypoplasia Syndrome (Goltz Syndrome) -- Ehlers-Danlos Syndromes -- Lipoid proteinosis -- Progressive facial hemiatrophy (parry-romberg syndrome) -- Linear scleroderma (morphoea) “en coup de sabre” -- Unilateral Somatic and Intracranial Hypoplasia -- Oculocerebrocutaneous Syndrome (Delleman Syndrome) -- Cerebello-Trigeminal Dermal Dysplasia (Gomez-Lopez-Hernandez Syndrome) -- Macrodactyly-Lipofibromatous Hamartoma of Nerves -- Chime Syndrome (Zunich Syndrome) -- Hypohidrotic Ectodermal Dysplasia (HED) -- Costello Syndrome and the Ras-Extracellular Signal Regulated Kinase (ERK) Pathway -- Anderson-Fabry Disease -- Cerebrotendinous Xanthomatosis -- Giant Axonal Neuropathy -- Lesch-Nyhan Syndrome -- The Skin as a Clue for the Diagnosis of Inherited Metabolic Disorders -- Skin Involvement as a Clinical Marker of Neuromuscular Disorders. |
| 520 ## - SUMMARY, ETC. |
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| Summary, etc. |
Neurocutaneous diseases are a wide group of conditions that affect the nervous system but appear as lesions of the skin. Some of the more common entities have variable forms of expression that can confuse the diagnosis; for the rare conditions it is difficult to find descriptions in the literature. Recent insights into their cellular, biochemical and molecular genetic bases have shown the essential need for a new nosology and updated genotype-phenotype correlations. The book provides an authoritative source of knowledge about these difficult problems and bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Medicine. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Human genetics. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Dermatology. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Neurology. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name entry element |
Neurosurgery. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Orthopedics. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name entry element |
Pediatrics. |
| 650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Medicine & Public Health. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Neurology. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Human Genetics. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Pediatrics. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Neurosurgery. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Orthopedics. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Dermatology. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
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| Personal name |
Ruggieri, Martino. |
| Relator term |
editor. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Pascual-Castroviejo, Ignacio. |
| Relator term |
editor. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Rocco, Concezio Di. |
| Relator term |
editor. |
| 710 2# - ADDED ENTRY--CORPORATE NAME |
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| Corporate name or jurisdiction name as entry element |
SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY |
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| Title |
Springer eBooks |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
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| Relationship information |
Printed edition: |
| International Standard Book Number |
9783211213964 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
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| Uniform Resource Identifier |
http://dx.doi.org/10.1007/978-3-211-69500-5 |
| 912 ## - |
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ZDB-2-SME |
