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Article

A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting.

PloS one - 1 Jan 2013

Ross Adam P, Mansilla M Adela, Choe Youngshik, Helminski Simon, Sturm Richard, Maute Roy L, May Scott R, Hozyasz Kamil K, Wójcicki Piotr, Mostowska Adrianna, Davidson Beth, Adamopoulos Iannis E, Pleasure Samuel J, Murray Jeffrey C, Zarbalis Konstantinos S

Abstract excerpt

Orofacial clefts are among the most common birth defects and result in an improper formation of the mouth or the roof of the mouth. Monosomy of the distal aspect of human chromosome 6p has been recognized as causative in congenital malformations affecting the brain and cranial skeleton including...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23935987
DOI: 10.1371/journal.pone.0069333
PMCID: PMC3723895

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23935987-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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