Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome

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healthcare

Type de record:

paper

Créateur:

KamMarBenAl-

Éditeur:

QatStrWeiHam

Éditeur:

CCSDBio

Hôte:

International audience A consanguineous Arab family is affected by an apparently novel autosomal recessive disorder characterized by cognitive impairment, failure-to-thrive, hypotonia and dysmorphic features including bilateral ptosis and epicanthic folds, synophrys, midface hypoplasia, downturned mouth corners, thin upper vermillion border and prominent ears, bilateral 5th finger camptodactyly, bilateral short 4th metatarsal bones, and limited knee mobility bilaterally.

GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon

This study aimed to investigate GJB2 (connexin 26) and GJB6 (connexin 30) mutations associated with

Localization of a Novel Autosomal Recessive Non‐syndromic Hearing Impairment Locus <i>DFNB63</i> to Chromosome 11q13.3‐q13.4

Summary Hereditary hearing impairment is the most genetically heterogeneous trait known in humans.

CONSANGUINEOUS MARRIAGES IN MOROCCO AND THE CONSEQUENCE FOR THE INCIDENCE OF AUTOSOMAL RECESSIVE DISORDERS

Summary Consanguineous marriage is traditionally common throughout Arab countries. This leads to an

A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36.

International audience OBJECTIVE: To describe the clinical features of a novel varian

Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome

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GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon

Localization of a Novel Autosomal Recessive Non‐syndromic Hearing Impairment Locus <i>DFNB63</i> to Chromosome 11q13.3‐q13.4

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