Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia-Reference-Cited by-同舟云学术

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Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia

Published:2015-05-28 Issue:1 Volume:173 Page:304-307
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Estapé A.¹,Josifova D.²,Rampling D.³,Glover M.¹,Kinsler V.A.¹⁴

Affiliation:

1. Department of Paediatric Dermatology Great Ormond Street Hospital for Children London WC1N 3JH U.K

2. Department of Genetics Guy's Hospital London U.K

3. Department of Paediatric Histopathology Great Ormond Street Hospital for Children London WC1N 3JH U.K

4. Genetics and Genomic Medicine UCL Institute of Child Health London U.K

Funder

Wellcome Trust

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.13636

Reference10 articles.

1. The CHILD syndrome

2. Mutations in the NSDHL gene, encoding a 3?-hydroxysteroid dehydrogenase, cause CHILD syndrome

3. Mutational spectrum of NSDHL in CHILD syndrome

4. CHILD Syndrome in 3 Generations

5. CHILD Syndrome Caused by a Deletion of Exons 6–8 of the NSDHL Gene

Cited by 11 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. Epidermal nevi and epidermal nevus syndromes in pediatric practice;Pediatrician (St. Petersburg);2023-02-23

2. Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review;Molecular Genetics & Genomic Medicine;2022-12-11

3. Bilateral verruciform lesions: A new CHILD syndrome presentation;Indian Journal of Dermatology, Venereology and Leprology;2022-12-08

4. Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.;Clinical Dysmorphology;2022-04-08

5. Child Syndrome;Neurocutaneous Disorders;2022

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