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Article

Two novel pathogenic variants in MED13L: one familial and one isolated case.

Journal of intellectual disability research : JIDR - 1 Dec 2021

Carvalho L M L, da Costa S S, Campagnari F, Kaufman A, Bertola D R, da Silva I T, Krepischi A C V, Koiffmann C P, Rosenberg C

Abstract excerpt

BACKGROUND: Genetic variants involving the MED13L gene can lead to an autosomal dominant syndrome characterised by intellectual disability/developmental delay and facial dysmorphism. METHODS: We investigated two cases (one familial and one isolated) of intellectual disability with speech delay and dysmorphic facial features by whole-exome sequencing analyses. Further, we performed a literature review about...

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PMID: 34713510
DOI: 10.1111/jir.12891

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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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