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Article

MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

American journal of medical genetics. Part A - 1 Jan 2018

Gordon Christopher T, Chopra Maya, Oufadem Myriam, Alibeu Olivier, Bras Marc, Boddaert Nathalie, Bole-Feysot Christine, Nitschké Patrick, Abadie Véronique, Lyonnet Stanislas, Amiel Jeanne

Abstract excerpt

We report two unrelated patients with Pierre Robin sequence (PRS) and a strikingly similar combination of associated features. Whole exome sequencing was performed for both patients. No single gene containing likely pathogenic point mutations in both patients could be identified, but the finding of an essential splice site mutation in mediator complex subunit 13 like (MED13L) in one patient prompted the...

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PMID: 29159987
DOI: 10.1002/ajmg.a.38536

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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