Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review.
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DOI: 10.1016/j.ejmg.2022.104496
Abstract: Pathogenic variants in the OFD1 gene have been classically associated with the Orofaciodigital syndrome type 1 in females, a condition previously considered to be X-linked dominant with male embryonic lethality. However, an increasing number of… read more here.
Keywords: phenotype males; case; report; expanding phenotype ... See more keywords