Denovo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia

Clinical Genetics

Volumn 61, Issue 5, 2002, Pages 359-362

  Kleefstra, T ^a   Yntema, H G ^a   Oudakker, A R ^a   Romein, T ^b   Sistermans, E ^a   Nillessen, W ^a   van Bokhoven, H ^a   de Vries, B B A ^a   Hamel, B C J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Child Psychiatry Observation Inst   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2; DNA BINDING PROTEIN; MECP2 PROTEIN, HUMAN; NONHISTONE PROTEIN; REPRESSOR PROTEIN;

ARTICLE; BRAIN DISEASE; CASE REPORT; CHROMOSOME 15Q; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; FRAMESHIFT MUTATION; GENDER; GENE DELETION; GYNECOMASTIA; HAPPY PUPPET SYNDROME; HUMAN; LETHALITY; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; OBESITY; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; RETT SYNDROME; SCHOOL CHILD; STOP CODON; X CHROMOSOME LINKED DISORDER; CHILD; GENETICS; NUCLEOTIDE SEQUENCE;

CHILD; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FRAMESHIFT MUTATION; GYNECOMASTIA; HUMANS; MALE; MENTAL RETARDATION; METHYL-CPG-BINDING PROTEIN 2; OBESITY; REPRESSOR PROTEINS; RETT SYNDROME;

EID: 0036557829     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610507.x     Document Type: Article

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