Atypical aplasia cutis in association with Xia Gibbs syndrome-Reference-Cited by-同舟云学术

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Atypical aplasia cutis in association with Xia Gibbs syndrome

Published:2021-01-19 Issue:2 Volume:38 Page:533-535
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Ellis Carter¹^ORCID,Pai Gurpur Shashidhar²^ORCID,Wine Lee Lara³^ORCID

Affiliation:

1. College of Medicine Medical University of South Carolina Charleston SC USA

2. Department of Genetics Medical University of South Carolina Charleston SC USA

3. Department of Dermatology and Dermatologic Surgery and Department of Pediatrics Medical University of South Carolina Charleston SC USA

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14515

Reference5 articles.

1. De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

2. Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation

3. Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital

4. Xia–Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition

5. The phenotypic spectrum of Xia-Gibbs syndrome

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. <i>De novo</i> <i>AHDC1</i> Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome;Molecular Syndromology;2024-05-20

2. Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient: A case report;World Journal of Clinical Cases;2022-07-26

3. Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review;Birth Defects Research;2022-06-18

4. Gibbin mesodermal regulation patterns epithelial development;Nature;2022-05-18

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