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Article

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.

Clinical genetics - 1 Feb 2017

Bruel A-L, Masurel-Paulet A, Rivière J-B, Duffourd Y, Lehalle D, Bensignor C, Huet F, Borgnon J, Roucher F, Kuentz P, Deleuze J-F, Thauvin-Robinet C, Faivre L, Thevenon J

Abstract excerpt

We report on a boy with a rare malformative association of scrotum agenesis, ophthalmological anomalies, cerebellar malformation, facial dysmorphism and global development delay. The reported patient was carrying a homozygous frameshift in MAB21L1 detected by whole-exome sequencing, considered as the most likely disease-causing variant. Mab21l1 knockout mice present a strikingly similar malformative association...

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PMID: 27103078
DOI: 10.1111/cge.12794

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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