A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity

European Journal of Medical Genetics

Volumn 49, Issue 4, 2006, Pages 298-305

  Varela, Monica C ^a   Simões Sato, Alex Y ^a   Kim, Chong A ^b   Bertola, Débora R ^b   De Castro, Claudia I E ^a   Koiffmann, Celia P ^a  

^a Institute of Biosciences   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Chromosome 6; Prader Willi syndrome; SIM1 gene; Syndromic obesity

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 6Q; CYTOGENETICS; FEMALE; GENE; GENE DELETION; HUMAN; MUTATIONAL ANALYSIS; OBESITY; PHENOTYPE; PRADER WILLI SYNDROME; SCREENING; SIM1 GENE; CHROMOSOME 6; CHROMOSOME DELETION; GENETIC SCREENING; GENETICS; INFANT; MALE; PRESCHOOL CHILD; SYNDROME;

BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; REPRESSOR PROTEIN; SIM1 PROTEIN, HUMAN;

BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; FEMALE; GENETIC SCREENING; HUMANS; INFANT; MALE; OBESITY; PHENOTYPE; PRADER-WILLI SYNDROME; REPRESSOR PROTEINS; SYNDROME;

EID: 33745612078     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.12.002     Document Type: Article

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