Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation

Carmen Esmer, Julio C. Salas-Alanis, Oscar R. Fajardo-Ramirez, Brenda Ramírez, Rong Hua, Keith Choate

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4 Citas (Scopus)

Resumen

Keratitis-ichthyosis-deafness syndrome is a well-characterized disease that has been related to mutations in the GJB6 gene. Clinical features such as erythrokeratoderma, palmoplantar keratoderma, alopecia, and progressive vascularizing keratitis, among others, are well known in this entity. In this report we describe a newborn female patient diagnosed with keratitis-ichthyosis-deafness syndrome with a lethal outcome due to sepsis. The patient harbored the mutation A88V that has been previously reported in lethal cases.
Idioma originalEnglish
Páginas (desde-hasta)143-146
Número de páginas4
PublicaciónRevista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion
Volumen68
N.º3
EstadoPublished - 1 may 2016
Publicado de forma externa

All Science Journal Classification (ASJC) codes

  • Medicina General

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