A Missense Mutation in TGM5 Causes Acral Peeling Skin Syndrome in a Tunisian Family

Type de record:

paper

Créateur:

MonNadDonHab

Éditeur:

Elsevier BV

Hôte:

Visit

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https://www.elsevier.com/tdm/userlicense/1.0/https://www.elsevier.com/legal/tdmrep-license http://www.elsevier.com/open-access/userlicense/1.0/

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A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family

A novel mutation in <i>CDSN</i> causes peeling skin disease in a patient from Morocco

A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family

International audience Deafness and myopia syndrome is characterized by moderate-prof

A novel <i>UBE3A</i> truncating mutation in large Tunisian Angelman syndrome pedigree

Abstract We identified in a large Tunisian pedigree a novel UBE3A frameshift mutation in exon 16 co

A novel homozygous c.1154+3_1151+6delAAGT mutation in CERKL causes autosomal recessive retinitis pigmentosa with a special phenotype in a consanguineous Tunisian Family

Purpose The aim of our study was to assess the clinical phenotype and to determine the causative ge