Multidisciplinary Approach to Ectodermal Dysplasia (Record no. 66421)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 04954nam a22006015i 4500 |
| 001 - CONTROL NUMBER | |
| control field | 978-3-031-75790-7 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | DE-He213 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20251030114925.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 250116s2024 sz | s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9783031757907 |
| -- | 978-3-031-75790-7 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/978-3-031-75790-7 |
| Source of number or code | doi |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RL1-803 |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MJK |
| Source | bicssc |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MED017000 |
| Source | bisacsh |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MJK |
| Source | thema |
| 245 10 - TITLE STATEMENT | |
| Title | Multidisciplinary Approach to Ectodermal Dysplasia |
| Medium | [electronic resource] / |
| Statement of responsibility, etc. | edited by Gianluca Tadini, John Timothy Wright, Smaïl Hadj-Rabia, Holm Schneider. |
| 250 ## - EDITION STATEMENT | |
| Edition statement | 1st ed. 2024. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Place of production, publication, distribution, manufacture | Cham : |
| Name of producer, publisher, distributor, manufacturer | Springer Nature Switzerland : |
| -- | Imprint: Springer, |
| Date of production, publication, distribution, manufacture, or copyright notice | 2024. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | XXI, 204 p. 60 illus., 58 illus. in color. |
| Other physical details | online resource. |
| 336 ## - CONTENT TYPE | |
| Content type term | text |
| Content type code | txt |
| Source | rdacontent |
| 337 ## - MEDIA TYPE | |
| Media type term | computer |
| Media type code | c |
| Source | rdamedia |
| 338 ## - CARRIER TYPE | |
| Carrier type term | online resource |
| Carrier type code | cr |
| Source | rdacarrier |
| 347 ## - DIGITAL FILE CHARACTERISTICS | |
| File type | text file |
| Encoding format | |
| Source | rda |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Preface -- 1. Epidemiology of Ectodermal Dysplasias -- 2. What is and isn’t an ectodermal dysplasia? -- 3. X-linked hypohidrotic ectodermal dysplasia: the pathogenic role of the EDA gene -- 4. X Linked-Hypohidrotic Ectodermal Dysplasia - Clinical Features -- 5. Incontinentia pigmenti -- 6. Genetic basis and molecular diagnosis of p63-associated ectodermal dysplasia -- 7. Focal Dermal Hypoplasia (FDH) and WNT10A-related ED -- 8. Nectinopathies: ectodermal dysplasia syndromes caused by mutations in PVRL1/4 genes encoding cell adhesion molecules nectins-1/4 -- 9. Other syndromes with prominent ectodermal dysplasia signs -- 10. Ectodermal Dysplasias: Orofacial Manifestations and Management -- 11. Oral and dental phenotype in ectodermal dysplasias -- 12. Ocular manifestations in hypohidrotic ectodermal dysplasia -- 13. Othorynolaryngologic manifestations in hypohidrotic ectodermal dysplasia -- 14. Broad phenotypic spectrum of Ectodermal Dysplasias in childhood and adolescence -- 15. ED Practical Management -- 16. Molecular therapies -- 17. Patient Advocacy Organizations: One Story of Success. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Ectodermal Dysplasias (ED) are a diverse group of genetic disorders characterized by congenital defects of two or more ectodermal structures (e.g., sweat gland, tooth, nail, hair), that count about 100 different manifestations. Therefore, the multidisciplinary aspect is a novel but crucial approach to correctly diagnose and treat this kind of diseases and eventually direct patients to specialized centers. A new classification has been proposed as well as new therapeutic options, such as the first prenatal protein replacement therapy for a genetic disease, X-linked hypohidrotic ectodermal dysplasia. The chapters of this book address all relevant topics, starting with epidemiology and embryology, disease classification, molecular biology, EDA1-associated ED, WNT10A-related ED, and p63-related ED. A chapter on ED caused by defects of structural proteins is included and one specifically devoted to differential diagnoses. Specific chapters describe diagnostic assessments and treatment: odontostomatological signs and therapy, ophthalmological or otorhinolaringoiatric signs, other organ involvement, neurological and neuropsychological issues. The final part is dedicated to the most recent developments in molecular therapy and the extremely important role of parents' and patients' associations. Written by internationally renowned experts, this handy resource will be of valuable help for a variety of specialists who deal with ectodermal dysplasias in their daily clinical work, e.g., pediatricians, dermatologists, ENT-specialists, dentists. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 9 (RLIN) | 72926 |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 9 (RLIN) | 64087 |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 9 (RLIN) | 64976 |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 9 (RLIN) | 63339 |
| 650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 9 (RLIN) | 72926 |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 9 (RLIN) | 64087 |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 9 (RLIN) | 64976 |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | |
| 9 (RLIN) | 73291 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tadini, Gianluca. |
| Relator term | editor. |
| Relator code | edt |
| -- | http://id.loc.gov/vocabulary/relators/edt |
| 9 (RLIN) | 90281 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wright, John Timothy. |
| Relator term | editor. |
| Relator code | edt |
| -- | http://id.loc.gov/vocabulary/relators/edt |
| 9 (RLIN) | 90282 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hadj-Rabia, Smaïl. |
| Relator term | editor. |
| Relator code | edt |
| -- | http://id.loc.gov/vocabulary/relators/edt |
| 9 (RLIN) | 90283 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schneider, Holm. |
| Relator term | editor. |
| Relator code | edt |
| -- | http://id.loc.gov/vocabulary/relators/edt |
| 9 (RLIN) | 90284 |
| 710 2# - ADDED ENTRY--CORPORATE NAME | |
| Corporate name or jurisdiction name as entry element | SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY | |
| Title | Springer Nature eBook |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Printed edition: |
| International Standard Book Number | 9783031757891 |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Printed edition: |
| International Standard Book Number | 9783031757914 |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Printed edition: |
| International Standard Book Number | 9783031757921 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/978-3-031-75790-7">https://doi.org/10.1007/978-3-031-75790-7</a> |
| 912 ## - | |
| -- | ZDB-2-SME |
| 912 ## - | |
| -- | ZDB-2-SXM |
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