Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 Genes

American Journal of Medical Genetics, Part A

Volumn 143, Issue 9, 2007, Pages 907-915

  Marziliano, Nicola ^a   Mannarino, Savina ^a   Nespoli, Luisa ^a   Diegoli, Marta ^a,b   Pasotti, Michele ^a   Malattia, Clara ^a   Grasso, Maurizia ^a   Pilotto, Andrea ^a   Porcu, Emanuele ^a   Raisaro, Arturo ^a   Raineri, Claudia ^a   Dore, Roberto ^a   Maggio, Pietro Paolo ^c   Brega, Agnese ^d,e   Arbustini, Eloisa ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c Sacro Cuore di Gesù Hospital   (Italy)

^d UNIVERSITY OF MILAN   (Italy)

^e Department of Genetics and Microbiology ^*  (Italy)

Author keywords

Barth syndrome; Dilated cardiomyopathy (DCM); Expression profiles; Left ventricle non compaction (LVNC); LIM domain binding 3 protein (LDB3); Tafazzin (TAZ)

Indexed keywords

LIM DOMAIN BINDING 3 PROTEIN; PROTEIN; TAFAZZIN; UNCLASSIFIED DRUG;

ARTICLE; BARTH SYNDROME; CASE REPORT; FAMILY; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; HEART FUNCTION; HEART LEFT VENTRICLE; HEMIZYGOSITY; HETEROZYGOSITY; HUMAN; MALE; MOTHER; MOUTH ULCER; MYOPATHY; NEUTROPENIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; SPONTANEOUS ABORTION;

ABNORMALITIES, MULTIPLE; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CARDIOMYOPATHY, DILATED; CHILD; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION PROFILING; GENETIC DISEASES, X-LINKED; HEART VENTRICLES; HETEROZYGOTE; HUMANS; MALE; MODELS, MOLECULAR; PEDIGREE; PROTEINS; SYNDROME; TRANSCRIPTION FACTORS;

EID: 34247876043     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31653     Document Type: Article

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