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Article

De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features.

American journal of medical genetics. Part A - 1 Jan 2021

Rips Jonathan, Mor-Shaked Hagar, Erdin Serkan, Yanovsky-Dagan Shira, Eventov-Friedman Smadar, Harel Tamar

Abstract excerpt

AMOTL1 belongs to the Motin family of proteins that are involved in organogenesis and tumorigenesis through regulation of cellular migration, tube formation, and angiogenesis. While involvement of all AMOTs in development or suppression of cancers is relatively well described, little is known about the congenital phenotype of pathogenic variants in these genes in humans. Recently, a heterozygous variant in AMOTL1...

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PMID: 33026150
DOI: 10.1002/ajmg.a.61901

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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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