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

por Mudassir, Behjat Ul, Agha, Zehra
Publicado 2023

Genome-wide CNV analysis uncovers novel pathogenic regions in cohort of five multiplex families with neurodevelopmental disorders

por Mudassir, Behjat Ul, Alotaibi, Mashael Alhumaidi, Kizilbash, Nadeem, Alruwaili, Daliyah, Alruwaili, Anwar, Alenezi, Modhi, Agha, Zehra
Publicado 2023