Article
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
American journal of medical genetics. Part A - 1 Jun 2020
Abdel-Salam Ghada M H, Sayed Inas S M, Afifi Hanan H, Abdel-Ghafar Sherif F, Abouzaid Maha R, Ismail Samira I, Aglan Mona S, Issa Mahmoud Y, El-Bassyouni Hala T, El-Kamah Ghada, Effat Laila K, Eid Maha, Zaki Maha S, Temtamy Samia A, Abdel-Hamid Mohamed S
Abstract excerpt
PCNT encodes a large coiled- protein localizing to pericentriolar material and is associated with microcephalic osteodysplastic primordial dwarfism type II syndrome (MOPD II). We report our experience of nine new patients from seven unrelated consanguineous Egyptian families with the distinctive clinical features of MOPD II in whom a customized NGS panel showed homozygous truncating variants of PCNT. The NGS...
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