Article
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow.
Life science alliance - 1 Oct 2024
Kim Angelina Haesoo, Sakin Irmak, Viviano Stephen, Tuncel Gulten, Aguilera Stephanie Marie, Goles Gizem, Jeffries Lauren, Ji Weizhen, Lakhani Saquib A, Kose Canan Ceylan, Silan Fatma, Oner Sukru Sadik, Kaplan Oktay I, Ergoren Mahmut Cerkez, Mishra-Gorur Ketu, Gunel Murat, Sag Sebnem Ozemri, Temel Sehime G, Deniz Engin
Abstract excerpt
Intellectual and developmental disabilities result from abnormal nervous system development. Over a 1,000 genes have been associated with intellectual and developmental disabilities, driving continued efforts toward dissecting variant functionality to enhance our understanding of the disease mechanism. This report identified two novel variants in CC2D1A in a cohort of four patients from two unrelated families. We...
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