Filamin a mutation is one cause of FG syndrome

American Journal of Medical Genetics, Part A

Volumn 143, Issue 16, 2007, Pages 1876-1879

  Unger, Sheila ^a   Mainberger, Anita ^a   Spitz, Christian ^b   Bähr, Anna ^a   Zeschnigk, Christine ^a   Zabel, Bernhard ^a   Superti Furga, Andrea ^a   Morris Rosendahl, Deborah J ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b Pediatrics Office   (Germany)

Author keywords

Constipation; FG syndrome; FGS2; Filamin A; FLNA

Indexed keywords

FILAMIN A;

ARTICLE; ATRESIA; CASE REPORT; CLINICAL FEATURE; CONGENITAL HEART DISEASE; CONGENITAL MALFORMATION; CONSTIPATION; CRYPTORCHISM; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FGS2 GENE; FLNA GENE; GENE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INFANT; INFANTILE HYPOTONIA; INGUINAL HERNIA; MACROCEPHALY; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; RARE DISEASE; SPEECH DEVELOPMENT; SYNDROME FG; X CHROMOSOME; X LINKED MENTAL RETARDATION;

ABNORMALITIES, MULTIPLE; ANAL CANAL; BRAIN; CHROMOSOMES, HUMAN, X; CONTRACTILE PROTEINS; FACIES; HUMANS; INFANT; MALE; MENTAL RETARDATION; MICROFILAMENT PROTEINS; MUSCLE HYPOTONIA; MUTATION; SYNDROME;

EID: 34547634462     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31751     Document Type: Article

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