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Article

Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.

American journal of medical genetics. Part A - 1 Mar 2010

Santos Helena H, Garcia Paula P, Pereira Latife, Leão Letícia L, Aguiar Regina A P L, Lana Ana M A, Carvalho Maria Raquel S, Aguiar Marcos J B

Abstract excerpt

Melnick-Needles syndrome (MNS) (OMIM 309350) is a rare, X-linked dominant condition, caused by mutations in the filamin A gene (FLNA, on Xq28). In females, the syndrome presents with bone dysplasia and characteristic facial changes. Affected males may show two different phenotypes. One is similar...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20186808
DOI: 10.1002/ajmg.a.33260

Genes

FLNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20186808-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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