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Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

5 Oct 2018

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Congenital heart defects research
Genetics and Neurodevelopmental Disorders
Peptidase Inhibition and Analysis

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 30291340
DOI: 10.1038/s41431-018-0281-5

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Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityPMID 30291340Read ↗

De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.Semantic proximity Read ↗

MEIS2 involvement in cardiac development, cleft palate, and intellectual disability.Semantic proximity Read ↗

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A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.Semantic proximity Read ↗

Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum.Semantic proximity Read ↗

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.Semantic proximity Read ↗

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