<i>CDK5RAP2</i> primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.

H, Nasser; L, Vera; M, Elmaleh-Bergès; K, Steindl; P, Letard; N, Teissier; A, Ernault; F, Guimiot; A, Afenjar; ML, Moutard; D, Héron; Y, Alembik; M, Momtchilova; P, Milani; N, Kubis; N, Pouvreau; M, Zollino; Crepon S, Guilmin; F, Kaguelidou; P, Gressens; A, Verloes; A, Rauch; Ghouzzi V, El; S, Drunat; S, Passemard

doi:10.1136/jmedgenet-2019-106474

Public

<i>CDK5RAP2</i> primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.

Shared by NobleBlocks on Feb 3, 2020 • 12:00 AM UTC

Authors:

Nasser H

Vera L

Elmaleh-Bergès M

Abstract

<h4>Background</h4>Primary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders mainly affecting cortical development and resulting in a congenital impairment of brain growth. Despite the identification of >25 causal genes so far, it remains a challenge to distingu...

Subject

Intellectual Disability

Sensorineural Hearing Loss

Mcph

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