Interstitial deletion of 6q25.2-q25.3: A novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

European Journal of Human Genetics

Volumn 17, Issue 5, 2009, Pages 573-581

  Nagamani, Sandesh Chakravarthy Sreenath ^a   Erez, Ayelet ^a   Eng, Christine ^a   Ou, Zhishuo ^a   Chinault, Craig ^a   Workman, Laura ^b   Coldwell, James ^c   Stankiewicz, Pawel ^a   Patel, Ankita ^a   Lupski, James R ^a,d   Cheung, Sau Wai ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Sutter Medical Center   (United States)

^c Children's Medical Center   (United States)

^d TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGENESIS; ARTICLE; BRAIN DEVELOPMENT; CASE REPORT; CHROMOSOME 6Q; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; ECHOCARDIOGRAPHY; FACE DYSMORPHIA; FEEDING DISORDER; FEMALE; GENE DELETION; GENETIC DISORDER; GENOME ANALYSIS; HAPLOTYPE; HEARING LOSS; HEART ATRIUM SEPTUM DEFECT; HUMAN; INFANT; KARYOTYPE; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; MICRODELETION SYNDROME; PERCEPTION DEAFNESS; PERINATAL DEVELOPMENT; PRIORITY JOURNAL; SUBARACHNOID HEMORRHAGE;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FACE; FEMALE; HEARING LOSS; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MICROCEPHALY; NADPH OXIDASE; SYNDROME;

EID: 67349137177     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.220     Document Type: Article

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