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Article

Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion.

Journal of human genetics - 1 Mar 2012

Okamoto Nana, Hayashi Shin, Masui Ayako, Kosaki Rika, Oguri Izumi, Hasegawa Tomoko, Imoto Issei, Makita Yoshio, Hata Akira, Moriyama Keiji, Inazawa Johji

Abstract excerpt

Approximately 3% of the live-born infants have major dysmorphic features, and about two-thirds of which are observed in the maxillofacial region; however, in many cases, the etiology of the dysmorphic features remains uncertain. Recently, the genome-wide screening of large patient cohorts with congenital disorders has made it possible to discover genomic aberrations corresponding to the pathogenesis. In our...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 10

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Source

Identifiers

PMID: 22258158
DOI: 10.1038/jhg.2011.154

Genes

BAMBI
MPP7
WAC

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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Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion.PMID 22258158Read ↗

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