A 5-Mb microdeletion at 6q16.1-q16.3 with SIM gene deletion and obesity

American Journal of Medical Genetics, Part A

Volumn 146, Issue 22, 2008, Pages 2975-2978

  Wang, Jia Chi ^a,b,e   Turner, Lesley ^c   Lomax, Brenda ^d   Eydoux, Patrice ^d  

^a HAMILTON REGIONAL LABORATORY MEDICINE PROGRAM   (Canada)

^b MCMASTER UNIVERSITY   (Canada)

^c MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^d CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

^e MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CHROMOSOME 6Q; CHROMOSOME DELETION; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; EAR MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; HUMAN; LETTER; MENTAL RETARDATION MALFORMATION SYNDROME; OBESITY; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SIM1 GENE;

ABNORMALITIES, MULTIPLE; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; OBESITY; PHENOTYPE; PRADER-WILLI SYNDROME; REPRESSOR PROTEINS;

EID: 56049124612     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32555     Document Type: Letter

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