A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS

Journal of Human Genetics

Volumn 57, Issue 3, 2012, Pages 197-201

  Kondo, Yukiko ^a   Saitsu, Hirotomo ^a   Miyamoto, Toshinobu ^b   Nishiyama, Kiyomi ^a   Tsurusaki, Yoshinori ^a   Doi, Hiroshi ^a   Miyake, Noriko ^a   Ryoo, Na Kyung ^c   Kim, Jeong Hun ^c   Yu, Young Suk ^c   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b ASAHIKAWA MEDICAL COLLEGE   (Japan)

^c Seoul National University College of Medicine   (South Korea)

Author keywords

BCOR; congenital cataract; frameshift mutation; genomic rearrangement; Nance Horan syndrome; NHS; oculofaciocardiodental syndrome

Indexed keywords

PROTEIN BCL 6;

ADULT; ARTICLE; BCOR GENE; CASE REPORT; CHILD; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE CARRIER; FEMALE; GENE; GENE DUPLICATION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC SCREENING; HEART SEPTUM DEFECT; HUMAN; KOREA; MICROARRAY ANALYSIS; MUTAGEN TESTING; NANCE HORAN SYNDROME; NHS GENE; NUCLEOTIDE SEQUENCE; OCULOFACIOCARDIODENTAL SYNDROME; PHENOTYPE; SCHOOL CHILD; STOP CODON; SYNDACTYLY; X CHROMOSOME DOMINANT DISORDER;

ADULT; BASE SEQUENCE; BRAIN; CATARACT; CHILD; CHROMOSOME BREAKPOINTS; DNA COPY NUMBER VARIATIONS; FEMALE; GENE ORDER; HAPLOTYPES; HEART DEFECTS, CONGENITAL; HETEROZYGOTE; HUMANS; MICROPHTHALMOS; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PROTEIN ISOFORMS; PROTO-ONCOGENE PROTEINS; REPRESSOR PROTEINS; TRANSLOCATION, GENETIC; X CHROMOSOME INACTIVATION;

EID: 84858989828     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.4     Document Type: Article

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