The first japanese familial sotos syndrome with a novel mutation of the NSD1 gene

Kobe Journal of Medical Sciences

Volumn 52, Issue 1, 2006, Pages 1-8

  Tei, Satoshi ^a   Tsuneishi, Syuichi ^a   Matsuo, Masafumi ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Familial cases; NSD1; Phenotype; Sotos syndrome

Indexed keywords

GENOMIC DNA; MESSENGER RNA;

ADULT; AMINO ACID SEQUENCE; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; DONOR SITE; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC TRANSCRIPTION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MENTAL DEVELOPMENT; MOLECULAR GENETICS; NSD1 GENE; POINT MUTATION; PRESCHOOL CHILD; RNA GENE; SOTOS SYNDROME;

ADULT; CHILD; DNA; EXONS; FEMALE; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; INTRONS; JAPAN; MALE; MUTATION; NUCLEAR PROTEINS; PEDIGREE; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER; SYNDROME;

EID: 33645214761     PISSN: 00232513     EISSN: 18830498     Source Type: Journal    
DOI: None     Document Type: Article

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