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Article

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).

American journal of human genetics - 12 Mar 2010

Meyer Esther, Ricketts Christopher, Morgan Neil V, Morris Mark R, Pasha Shanaz, Tee Louise J, Rahman Fatimah, Bazin Anne, Bessières Bettina, Déchelotte Pierre, Yacoubi Mohamed T, Al-Adnani Mudher, Marton Tamas, Tannahill David, Trembath Richard C, Fallet-Bianco Catherine, Cox Phillip, Williams Denise, Maher Eamonn R

Abstract excerpt

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also known as Fowler syndrome, is an autosomal-recessively inherited prenatal lethal disorder characterized by hydranencephaly; brain stem, basal ganglia, and spinal cord diffuse clastic ischemic lesions with calcificati...

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 14

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20206334
DOI: 10.1016/j.ajhg.2010.02.004
PMCID: PMC2833392

Genes

FLVCR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20206334-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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Click a neighbor to travelStep 1 · 12 closest

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).PMID 20206334Read ↗

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.Semantic proximity Read ↗

Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.Semantic proximity Read ↗

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.Semantic proximity Read ↗

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.Semantic proximity Read ↗

Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndromeSemantic proximity Read ↗

Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.Semantic proximity Read ↗

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