Phenotypic and genetic spectrum of incontinentia pigmenti – a large case series-Reference-Cited by-同舟云学术

Phenotypic and genetic spectrum of incontinentia pigmenti – a large case series

Published:2021-12-13 Issue:1 Volume:20 Page:35-43
ISSN:1610-0379
Container-title:JDDG: Journal der Deutschen Dermatologischen Gesellschaft
language:en
Short-container-title:J Deutsche Derma Gesell

Author:

Hübner Stefanie¹,Schwieger‐Briel Agnes²,Technau‐Hafsi Kristin¹,Danescu Sorina³,Baican Adrian³,Theiler Martin²,Weibel Lisa²,Has Cristina¹⁴

Affiliation:

1. Department of Dermatology Medical Center‐University of Freiburg Germany

2. Pediatric Skin Center Dermatology Department University Children’s Hospital Zurich Switzerland

3. Department of Dermatology Iuliu Hat˛ieganu University of Medicine and Pharmacy Cluj‐Napoca Romania

4. European Reference Network (ERN) on Rare and Undiagnosed Skin Disorders

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ddg.14638

Reference44 articles.

1. Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway

2. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling

3. Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome

4. Prevalence and incidence of rare diseases: Bibliographic data prevalence, incidence or number of published cases listed by diseases (in alphabetical order);Rath A;Orphanet Report Series

5. Incontinentia pigmenti (Bloch-Sulzberger syndrome).

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