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Article

Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2021

Horn Denise, Fernández-Núñez Elisa, Gomez-Carmona Ricardo, Rivera-Barahona Ana, Nevado Julian, Schwartzmann Sarina, Ehmke Nadja, Lapunzina Pablo, Otaify Ghada A, Temtamy Samia, Aglan Mona, Boschann Felix, Ruiz-Perez Victor L

Abstract excerpt

PURPOSE: This study aimed to identify the genetic cause of a new multiple congenital anomalies syndrome observed in three individuals from two unrelated families. METHODS: Clinical assessment was conducted prenatally and at different postnatal stages. Genetic studies included exome sequencing (ES) combined with single-nucleotide polymorphism (SNP) array based homozygosity mapping and trio ES. Dermal fibroblasts...

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PMID: 33442026
DOI: 10.1038/s41436-020-01052-2

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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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