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European Journal of Human Genetics : EJHG|October 7, 2018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityRosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, et al.Journal of Medical Genetics|December 23, 2024
TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomaliesJeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, et al.American Journal of Medical Genetics. Part A|July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataAmy Hardcastle, Aliska M Berry, Ian M Campbell, et al.Pageof 5