Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.

This report expands the phenotypical spectrum associated with CEP57 and highlights the interest of blood karyotype in patients presenting with short stature and microcephaly.
PMID: 32861809 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - August 26, 2020 Category: Genetics & Stem Cells Authors: Dery T, Chatron N, Alqahtani A, Pugeat M, Till M, Edery P, Sanlaville D, Schluth-Bolard C, Nicolino M, Lesca G, Putoux A Tags: Eur J Med Genet Source Type: research