Article

MAP3K7 novel variants in syndromic 46,XY DSD

2026-05-06

Abstract excerpt

Mutations in MAP3K7 are responsible for two distinct syndromes Cardiospondylocarpofacial (CSCF) and Frontometaphyseal dysplasia 2 (FMD2). Both are characterized by skeletal malformations, facial dysmorphisms, hearing loss, and mild intellectual disability. While cardiac defects are predominant in CSCF, keloid scar is a distinct feature in FMD2. Problem with gonadal development and disorders of sexual development...

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Literature Corpus work: 9bb4948e-9340-507d-8e76-26b272ed9fb0
DOI: 10.64898/2026.05.05.26352427

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