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

American Journal of Medical Genetics, Part A

Volumn 170, Issue 4, 2016, Pages 891-895

  Atwal, Paldeep Singh ^a,b,c   Blease, Sophie ^a   Braxton, Alicia ^b   Graves, Julia ^d   He, Weimin ^b   Person, Richard ^b   Slattery, Leah ^a   Bernstein, Jonathan Adam ^a   Hudgins, Louanne ^a  

^a STANFORD UNIVERSITY   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c MAYO CLINIC   (United States)

^d Private Practice   (United States)

Author keywords

Cardiac valvulopathy; FLNA; G1576R; Joint hypomobility; Keloid scar

Indexed keywords

CD163 ANTIGEN; CD68 ANTIGEN; FILAMIN A; CODON; FILAMIN;

ADULT; AMINO ACID SUBSTITUTION; AORTA STENOSIS; ARTICLE; BRACHYDACTYLY; CASE REPORT; CONTROLLED STUDY; ECHOCARDIOGRAPHY; EXOME; EYE EXAMINATION; HEMIZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INTESTINE OBSTRUCTION; JOINT MOBILITY; KELOID; MALE; MIDDLE AGED; MYOPIA; PIGMENTED NEVUS; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; SEGREGATION ANALYSIS; SKIN BIOPSY; TRICUSPID VALVE REGURGITATION; VALVULAR HEART DISEASE; X CHROMOSOME LINKED DISORDER; YOUNG ADULT; ALLELE; CODON; FACIES; GENETIC ASSOCIATION STUDY; GENETIC DISEASES, X-LINKED; GENETICS; GENOTYPE; MUTATION; PATHOLOGY; PEDIGREE; PHENOTYPE; SYNDROME;

ADULT; ALLELES; AMINO ACID SUBSTITUTION; CODON; FACIES; FILAMINS; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; GENOTYPE; HUMANS; KELOID; MALE; MUTATION; PEDIGREE; PHENOTYPE; SYNDROME; YOUNG ADULT;

EID: 84961216990     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37491     Document Type: Article

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