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Article

Two New Families With TAF13 Variant Presenting With Syndromic 46,XY Disorder of Sex Development: Expanding the Clinical Phenotype.

American journal of medical genetics. Part A - 1 Dec 2025

Arı Hasan, Türkyılmaz Ayberk, Doğan Arı Ayşe Burcu, Kardeş Hakan, Sezer Abdullah, Cimbek Emine Ayça, Savaş Erdeve Şenay, Karagüzel Gülay

Abstract excerpt

Intellectual developmental disorder, autosomal recessive 60 (MRT60, #617432) is an ultrarare genetic disorder characterized by microcephaly, intellectual disability, growth retardation, seizure, and central nervous system abnormalities. The disease is caused by biallelic variants in the TATA box-binding protein-associated factor gene (TAF13) gene. To date, only four patients with MRT60 have been reported in the...

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Identifiers

PMID: 40679298
DOI: 10.1002/ajmg.a.64183

Genes

TAF13

Variants

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