Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 uncommo...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Arteries
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hemangioma

Share to Rett Syndrome

Share to Skin Diseases

Share to Syndrome

Share to X Chromosome Inactivation

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17850631-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Non-random maternal X-chromosome inactivation associated with PHACES.PMID 17850631Read ↗

Skewed X inactivation in X-linked disorders.Semantic proximity Read ↗

Skewed X-Chromosome Inactivation Is Common in Fetuses or Newborns Associated with Confined Placental MosaicismSemantic proximity Read ↗

Non-random X chromosome inactivation in Aicardi syndrome.Semantic proximity Read ↗

Four new cases of PHACES syndrome: variable phenotypic expression and endocrine features.Semantic proximity Read ↗

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.Semantic proximity Read ↗

Haemophilia A and cardiovascular morbidity in a female SHAM syndrome carrier due to skewed X chromosome inactivationSemantic proximity Read ↗

X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.Semantic proximity Read ↗

Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome.Semantic proximity Read ↗

Evidence that skewed X inactivation is not needed for the phenotypic expression of Aicardi syndrome.Semantic proximity Read ↗

X-inactivation patterns in carriers of X-linked myotubular myopathy.Semantic proximity Read ↗

Transmission-ratio distortion of X chromosomes among male offspring of females with skewed X-inactivation.Semantic proximity Read ↗

X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.