Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome

Genes and Genomics

Volumn 35, Issue 2, 2013, Pages 141-147

  Yatsuki, Hitomi ^a   Higashimoto, Ken ^a   Jozaki, Kosuke ^a   Koide, Kayoko ^a   Okada, Junichiro ^b   Watanabe, Yoriko ^b   Okamoto, Nobuhiko ^c   Tsuno, Yoshinobu ^d   Yoshida, Yoko ^e   Ueda, Kazutoshi ^e   Shimizu, Kenji ^f   Ohashi, Hirofumi ^f   Mukai, Tsunehiro ^g   Soejima, Hidenobu ^a  

^a SAGA UNIVERSITY   (Japan)

^b KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

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

^d WAKAYAMA MEDICAL UNIVERSITY HOSPITAL   (Japan)

^e Kitano Hospital   (Japan)

^f SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^g NISHIKYUSHU UNIVERSITY   (Japan)

Author keywords

Beckwith Wiedemann syndrome; CDKN1C; Gene mutation; Genomic imprinting

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1C; GENOMIC DNA;

ABDOMINAL WALL DEFECT; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CARDIOMEGALY; CHILD; CHROMOSOME 11; CHROMOSOME ABERRATION; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENITAL MALFORMATION; GENOME IMPRINTING; GENOTYPE PHENOTYPE CORRELATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; HUMAN TISSUE; HYPOGLYCEMIA; INFANT; INGUINAL HERNIA; JAPANESE; LONG QT SYNDROME; MACROGLOSSIA; MACROSOMIA; MALE; MISSENSE MUTATION; NEVUS FLAMMEUS; NONSENSE MUTATION; NUCLEAR LOCALIZATION SIGNAL; NUCLEIC ACID BASE SUBSTITUTION; PRESCHOOL CHILD; RESTRICTION SITE; TUBEROUS SCLEROSIS;

EID: 84880899928     PISSN: 19769571     EISSN: 20929293     Source Type: Journal    
DOI: 10.1007/s13258-013-0079-3     Document Type: Article

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