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

• Κύριοι συγγραφείς: Behjat Ul Mudassir (Συγγραφέας), Zehra Agha (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: MDPI AG, 2023-06-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

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...