A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes

American Journal of Medical Genetics, Part A

Volumn 152, Issue 5, 2010, Pages 1300-1304

  LePichon, Jean Baptiste ^a   Bittel, Douglas C ^a   Graf, William D ^a   Yu, Shihui ^a  

^a UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

Author keywords

15q13.3 homozygous deletion; CHRNA7; Microarray comparative genomic hybridization (aCGH); MTMR10; MTMR15; TRPM1

Indexed keywords

BUNGAROTOXIN RECEPTOR; TRANSIENT RECEPTOR POTENTIAL CHANNEL M; TRANSIENT RECEPTOR POTENTIAL CHANNEL M 1; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME DELETION; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE SEVERITY; EPILEPSY; GENE; GENE FUNCTION; HOMOZYGOSITY; HUMAN; MALE; MTMR GENE; MUSCLE HYPOTONIA; PRIORITY JOURNAL; VISUAL IMPAIRMENT;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; HOMOZYGOTE; HUMANS; INFANT; MALE; RECEPTORS, NICOTINIC; TRPM CATION CHANNELS;

EID: 77951710096     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33374     Document Type: Article

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