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Article

Filamin A mutation is one cause of FG syndrome.

American journal of medical genetics. Part A - 15 Aug 2007

Unger Sheila, Mainberger Anita, Spitz Christian, Bähr Anna, Zeschnigk Christine, Zabel Bernhard, Superti-Furga Andrea, Morris-Rosendahl Deborah J

Abstract excerpt

FG syndrome was originally described as a rare syndromic cause of X-linked mental retardation associated with congenital heart disease, anal atresia, inguinal hernia, cryptorchidism, and other anomalies. However, recent reports have highlighted the more common milder presentation which has for cardinal features developmental delay, particularly in speech, neonatal hypotonia, relative macrocephaly, dysmorphic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17632775
DOI: 10.1002/ajmg.a.31751

Genes

FLNA

Variants

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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Filamin A mutation is one cause of FG syndrome.PMID 17632775Read ↗

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Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.Semantic proximity Read ↗

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