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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Váldodahkkit: Behjat Ul Mudassir (Dahkki), Zehra Agha (Dahkki)
Materiálatiipa: Girji
Almmustuhtton: MDPI AG, 2023-06-01T00:00:00Z.
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3rd Floor Main Library

oažžasuvvan: 3rd Floor Main Library
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