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Article

Non-random maternal X-chromosome inactivation associated with PHACES.

Clinical genetics - 1 Oct 2007

Levin J H, Kaler S G

Abstract excerpt

The acronym PHACES is used to describe the association of posterior fossa malformations, hemangiomas, arterial anomalies (cardiovascular or cerebrovascular), coarctation of the aorta and cardiac defects, eye abnormalities, and sternal or ventral defects. We report a female patient with an uncommon variant of this neurocutaneous disorder who manifested a sternal cleft; supraumbilical raphe; hemangiomas of the...

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Source

Identifiers

PMID: 17850631
DOI: 10.1111/j.1399-0004.2007.00851.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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