IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus

American Journal of Medical Genetics, Part A

Volumn 143, Issue 4, 2007, Pages 326-332

  Paradisi, Irene ^a   Arias, Sergio ^a  

^a INSTITUTO VENEZOLANO DE INVESTIGACIONES CIENTÍFICAS   (Venezuela)

Author keywords

Cardiac malformation; Hearing impairment; IVIC syndrome; Oculomotor deficit; Radial ray defect; SALL4

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA FLANKING REGION; EXON; FAMILY ASSESSMENT; FEMALE; GENE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PLEIOTROPY; POLYMORPHIC LOCUS; PRIORITY JOURNAL; SALL4 GENE; SEGREGATION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; SYNDROME IVIC; VENEZUELA;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; GENES, DOMINANT; HAPLOTYPES; HEART MURMURS; HUMANS; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION; THROMBOCYTOPENIA; TRANSCRIPTION FACTORS; UPPER EXTREMITY DEFORMITIES, CONGENITAL;

FISTULA;

EID: 33846804332     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31603     Document Type: Article

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