Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome

Chinese Medical Journal

Volumn 118, Issue 18, 2005, Pages 1499-1506

  Tong, Tony M F ^a   Hau, Edgar W L ^a   Lo, Ivan F M ^a   Chan, Daniel H C ^a   Lam, Stephen T S ^a  

^a Clinical Genetic Service   (Hong Kong)

Author keywords

NSD1 gene mutation; Sotos syndrome; Weaver syndrome

Indexed keywords

NUCLEAR RECEPTOR BINDING SET DOMAIN CONTAINING PROTEIN 1; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ARTICLE; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART DISEASE; DISEASE PREDISPOSITION; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOIDY; HUMAN; MALE; MARKER GENE; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NSD1 GENE; NUCLEOTIDE SEQUENCE; POINT MUTATION; SITE DIRECTED MUTAGENESIS; SOTOS SYNDROME;

ABNORMALITIES, MULTIPLE; BRAIN; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; GENE DELETION; GROWTH DISORDERS; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION; NUCLEAR PROTEINS; SYNDROME;

EID: 26044464790     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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