Novel TBX3 mutation data in families with Ulnar-Mammary syndrome indicate a genotype-phenotype relationship: Mutations that do not disrupt the T-domain are associated with less severe limb defects

European Journal of Medical Genetics

Volumn 49, Issue 2, 2006, Pages 151-158

  Meneghini, Vasco ^a   Odent, Sylvie ^b   Platonova, Natalia ^a,c   Egeo, Aliana ^a   Merlo, Giorgio R ^a  

^a DULBECCO TELETHON INSTITUTE   (Italy)

^b SERVICE DE RHUMATOLOGIE   (France)

^c INSTITUTE OF EXPERIMENTAL MEDICINE   (Russian Federation)

Author keywords

Genotype phenotype relationship; Limb malformation; Mutation; T box; TBX3; Ulnar Mammary syndrome

Indexed keywords

T BOX TRANSCRIPTION FACTOR; T BOX TRANSCRIPTION FACTOR 3; UNCLASSIFIED DRUG;

ARTICLE; BREAST HYPOPLASIA; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LIMB MALFORMATION; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; SEQUENCE ANALYSIS; SYNDROME; ULNAR MAMMARY SYNDROME;

DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; SEVERITY OF ILLNESS INDEX; SYNDROME; T-BOX DOMAIN PROTEINS;

MURINAE;

EID: 33644852924     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.04.021     Document Type: Article

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