Evidence for an autosomal recessive pattern of inheritance in Keratitis-ichthyosis-deafness (KID) syndrome: Exome sequencing reveals a novel homozygous GJB2 mutation-Reference-Cited by-同舟云学术

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Evidence for an autosomal recessive pattern of inheritance in Keratitis-ichthyosis-deafness (KID) syndrome: Exome sequencing reveals a novel homozygous GJB2 mutation

Published:2019-02 Issue: Volume:19 Page:15-22
ISSN:2214-5400
Container-title:Meta Gene
language:en
Short-container-title:Meta Gene

Author:

Ramzan Khushnooda^ORCID,Huma Rozeena,Al-Numair Nouf S.,Imtiaz Faiqa,Al-Sayed Moeenaldeen

Funder

KFSH&RC

King Salman Centre for Disability Research

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference29 articles.

1. Synthesis and assembly of connexins in vitro into homomeric and heteromeric functional gap junction hemichannels;Ahmad;Biochem. J.,1999

2. The SAAP pipeline and database: tools to analyze the impact and predict the pathogenicity of mutations;Al-Numair;BMC Genomics,2013

3. Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions;Bliznetz;J. Hum. Genet.,2017

4. A case of generalized keratoderma with unusual involvement of the eyes and nasal and buccal mucous membranes;Burns;J. Cutan. Dis.,1915

5. Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology;Caceres-Rios;Pediatr. Dermatol.,1996

Cited by 1 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. Keratitis‐ichthyosis‐deafness syndrome: A comprehensive review of cutaneous and systemic manifestations;Pediatric Dermatology;2022-11-29

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