Delineation of the proximal 3q microdeletion syndrome

American Journal of Medical Genetics, Part A

Volumn 146, Issue 13, 2008, Pages 1729-1735

  Simovich, Marcia J ^a   Bland, Steven D ^a   Peiffer, Daniel A ^b   Gunderson, Kevin L ^b   Sau, Wai Cheung ^a   Yatsenko, Svetlana A ^a   Shinawi, Marwan ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b ILLUMINA INC   (United States)

Author keywords

3q13 deletion; ALCAM; Array CGH; CBLB; Chromosome rearrangement

Indexed keywords

3Q MICRODELETION SYNDROME; ALCAM GENE; ARTICLE; BRACHYCEPHALY; CASE REPORT; CBLB GENE; CHILD; CHROMOSOME 3; CHROMOSOME ARM; CHROMOSOME DELETION; CRYPTORCHISM; CYTOGENETICS; FACE MALFORMATION; FALLOT TETRALOGY; FOREHEAD; GENE; GENE DELETION; HISPANIC; HUMAN; MALE; NOSE MALFORMATION; PHENOTYPE; PRIORITY JOURNAL; PROMINENT EAR; RARE DISEASE; SKELETON MALFORMATION;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; CRANIOFACIAL ABNORMALITIES; FEMALE; GENE DOSAGE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; SYNDROME;

EID: 47149108282     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32292     Document Type: Article

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