Condition: Periventricular Heterotopia, X-Linked


rs137853311 in FLNA gene and Periventricular Heterotopia, X-Linked PMID 11914408 2002 Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.

PMID 11532987 2001 Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.

PMID 15249610 2004 Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.

PMID 15668422 2005 Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

PMID 16299064 2006 A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.

PMID 15994863 2006 Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.

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

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

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

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

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

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

PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

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

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

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

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

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.