Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity

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Authors: Sevcan Mercan, Nihan Hande Akcakaya, Baris Salman, Zuhal Yapici, Ugur Ozbek, Sibel Aylin Ugur Iseri

Journal title: Genes & Genomics

Journal number: 45

Journal publisher: The Korean Society of Genetics

Published year: 2023

Published pages: 13-21

DOI identifier: 10.1007/s13258-022-01344-8

ISSN: 1976-9571