X-Linked Cardiac Valvular Dysplasia Latest Advances

Analysis of a Chinese pedigree affected with X-linked cardiac valve dysplasia (CVDPX) and congenital chronic pseudo intestinal obstruction (CIIPX) due to a c.443A>G variant of FLNA gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: July 07, 2025

X-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA gene.

Journal: Kardiologia polska

Published: December 23, 2022

A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congenital Glaucoma.

Journal: Journal of glaucoma

Published: December 07, 2019

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.

Journal: Revista espanola de cardiologia (English ed.)

Published: July 06, 2017

Congenital valvular defects associated with deleterious mutations in the PLD1 gene.

Journal: Journal of medical genetics

Published: August 20, 2016

Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.

Journal: American journal of medical genetics. Part A

Published: April 11, 2016

Longitudinal Echocardiographic Evaluation of an Unusual Presentation of X-Linked Myxomatous Valvular Dystrophy Caused by Filamin A Mutation.

Journal: Seminars in cardiothoracic and vascular anesthesia

Published: March 24, 2016

A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.

Journal: Clinical genetics

Published: October 12, 2015

Surgical experience for prolapse of both atrioventricular valves in a patient with filamin A mutation.

Journal: Cardiology in the young

Published: February 14, 2014

Mitral valve regurgitation: use of the standard and the latest echocardiographic techniques for establishing the diagnosis.

Journal: Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese

Published: September 22, 2012

Developmental basis for filamin-A-associated myxomatous mitral valve disease.

Journal: Cardiovascular research

Published: July 31, 2012

A familial case of Cantu craniofaciofronto digital syndrome.

Journal: Clinical dysmorphology

Published: April 17, 2012

Filters

Analysis of a Chinese pedigree affected with X-linked cardiac valve dysplasia (CVDPX) and congenital chronic pseudo intestinal obstruction (CIIPX) due to a c.443A>G variant of FLNA gene

Analysis of a Chinese pedigree affected with X-linked cardiac valve dysplasia (CVDPX) and congenital chronic pseudo intestinal obstruction (CIIPX) due to a c.443A>G variant of FLNA gene

X-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA gene.

X-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA gene.

A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congenital Glaucoma.

A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congenital Glaucoma.

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.

Congenital valvular defects associated with deleterious mutations in the PLD1 gene.

Congenital valvular defects associated with deleterious mutations in the PLD1 gene.

Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.

Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.

Longitudinal Echocardiographic Evaluation of an Unusual Presentation of X-Linked Myxomatous Valvular Dystrophy Caused by Filamin A Mutation.

Longitudinal Echocardiographic Evaluation of an Unusual Presentation of X-Linked Myxomatous Valvular Dystrophy Caused by Filamin A Mutation.

A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.

A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.

Surgical experience for prolapse of both atrioventricular valves in a patient with filamin A mutation.

Surgical experience for prolapse of both atrioventricular valves in a patient with filamin A mutation.

Mitral valve regurgitation: use of the standard and the latest echocardiographic techniques for establishing the diagnosis.

Mitral valve regurgitation: use of the standard and the latest echocardiographic techniques for establishing the diagnosis.

Developmental basis for filamin-A-associated myxomatous mitral valve disease.

Developmental basis for filamin-A-associated myxomatous mitral valve disease.

A familial case of Cantu craniofaciofronto digital syndrome.

A familial case of Cantu craniofaciofronto digital syndrome.