Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly

American Journal of Medical Genetics, Part A

Volumn 146, Issue 22, 2008, Pages 2905-2910

  Hayashi, Shin ^a,b   Okamoto, Nobuhiko ^c   Makita, Yoshio ^d   Hata, Akira ^e   Imoto, Issei ^a,b   Inazawa, Johji ^a,b  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^c RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^d ASAHIKAWA MEDICAL COLLEGE   (Japan)

^e CHIBA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Array CGH; BMP4; Congenital corneal opacity; GMFB; Mental retardation; Postaxial polydactyly; Sclerocornea glaucoma; Syndactyly

Indexed keywords

BONE MORPHOGENETIC PROTEIN 4;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 14Q; COMPARATIVE GENOMIC HYBRIDIZATION; CORNEA OPACITY; CYTOGENETICS; FEMALE; GENE MUTATION; GLAUCOMA; HUMAN; JAPANESE; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MULTIPLE MALFORMATION SYNDROME; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SYNDACTYLY;

ABNORMALITIES, MULTIPLE; BONE MORPHOGENETIC PROTEIN 4; CATARACT; CHROMOSOME DELETION; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 14; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; PSYCHOMOTOR DISORDERS; SYNDACTYLY; TOES;

BACTERIA (MICROORGANISMS); MUS;

EID: 56049112819     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32519     Document Type: Article

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