[Keratitis-Ichthyosis-Deafness syndrome (KID) in a Togolese child born from a consanguineous marriage].

作者信息

Kombaté Koussak, Saka Bayaki, Landoh Dadja Essoya, Mouhari-Toure Abass, Akakpo Séfako, Belei Eric, Gnassingbé Wanguena, Djibril Mohaman Awalou, Tchangaï-Walla Kissem, Pitché Palokinam

机构信息

Service de Dermatologie-Vénéréologie, CHU Lomé, Faculté des Sciences de la Santé, Université de Lomé, Lomé, Togo.

Ministère de la Santé, Division de l'Epidémiologie, Lomé, Togo.

出版信息

Pan Afr Med J. 2015 Aug 7;21:266. doi: 10.11604/pamj.2015.21.266.6857. eCollection 2015.

DOI:10.11604/pamj.2015.21.266.6857

PMID:26664520

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4646290/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71cd/4646290/4fd1706505c3/PAMJ-21-266-g001.jpg

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本文引用的文献

Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.

BMC Med Genet. 2013 Aug 7;14:81. doi: 10.1186/1471-2350-14-81.

[Keratitis-ichthyosis-deafness (KID) syndrome: an observation in a child in sub-Saharan Africa].

Ann Dermatol Venereol. 2011 May;138(5):453-5. doi: 10.1016/j.annder.2011.02.006. Epub 2011 Mar 31.

Keratitis-ichthyosis-deafness syndrome lacking subjective hearing impairment.

Acta Derm Venereol. 2008;88(4):406-8. doi: 10.2340/00015555-0457.

Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.

Br J Dermatol. 2007 May;156(5):1015-9. doi: 10.1111/j.1365-2133.2007.07806.x. Epub 2007 Mar 23.

[Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome].

J Dtsch Dermatol Ges. 2005 Feb;3(2):105-8. doi: 10.1111/j.1610-0378.2005.04748.x.

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.

Am J Med Genet A. 2005 Mar 1;133A(2):128-31. doi: 10.1002/ajmg.a.30515.

Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.

Br J Dermatol. 2003 Apr;148(4):649-53. doi: 10.1046/j.1365-2133.2003.05245.x.

A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.

J Invest Dermatol. 2002 Apr;118(4):724-7. doi: 10.1046/j.1523-1747.2002.01735.x.

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

Am J Hum Genet. 2002 May;70(5):1341-8. doi: 10.1086/339986. Epub 2002 Mar 22.

Keratitis, ichthyosis, and deafness (KID) syndrome in half sibs.

Pediatr Dermatol. 1998 May-Jun;15(3):219-21. doi: 10.1046/j.1525-1470.1998.1998015219.x.

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