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Article

MED13L-related intellectual disability due to paternal germinal mosaicism.

Cold Spring Harbor molecular case studies - 1 Jan 2022

Bessenyei Beáta, Balogh István, Mokánszki Attila, Ujfalusi Anikó, Pfundt Rolph, Szakszon Katalin

Abstract excerpt

The MED13L-related intellectual disability or MRFACD syndrome (Mental retardation and distinctive facial features with or without cardiac defects; MIM # 616789) is one of the most common forms of syndromic intellectual disability with about a hundred cases reported so far. Affected individuals share overlapping features comprising intellectual disability, hypotonia, motor delay, remarkable speech delay, and a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34654706
DOI: 10.1101/mcs.a006124
PMCID: PMC8744498

Provenance

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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