Condition: Melnick-Needles Syndrome


rs137853312 in FLNA gene and Melnick-Needles Syndrome PMID 15523633 2005 A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation.

PMID 16596676 2006 Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.

PMID 16835913 2006 Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

PMID 17264970 2007 A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation.

PMID 12612583 2003 Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

PMID 15194946 2004 Molecular pathology of filamin A: diverse phenotypes, many functions.

PMID 26471271 2015 47 patients with FLNA associated periventricular nodular heterotopia.

PMID 16684786 2006 Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

PMID 20730588 2011 Combined cardiological and neurological abnormalities due to filamin A gene mutation.

PMID 27193221 2016 Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

PMID 26804200 2016 A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.

PMID 26686323 2016 Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.