Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in <i>RTTN</i> Gene: A Seckel Syndrome Case Report

Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in <i>RTTN</i> Gene: A Seckel Syndrome Case Report

The <i>RTTN</i> gene encodes centriole biogenesis, replication, symmetry and cohesion, basal body organization and has recently been associated with the appearance of microcephaly syndromes. <i>RTTN</i>-related neurological defects including microcephaly, intellectual disabil...

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Bibliographic Details
Main Authors: Behjat Ul Mudassir, Zehra Agha
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:Children
Subjects:
Seckel syndrome case in Islamabad
<i>RTTN</i> gene related Seckel syndrome case
missense variant in <i>RTTN</i> gene
MCPH and <i>RTTN</i> gene missense mutation
Online Access:https://www.mdpi.com/2227-9067/10/6/1027

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https://www.mdpi.com/2227-9067/10/6/1027

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