Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?

Human Mutation

Volumn 20, Issue 4, 2002, Pages 249-252

  Winnepenninckx, Birgitta ^a   Errijgers, Vanessa ^a   Hayez Delatte, France ^b   Reyniers, Edwin ^a   Kooy, R Frank ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b ERASME HOSPITAL   (Belgium)

Author keywords

Diagnostic screening; MECP2; Mental retardation; MRX79; Rett Syndrome; RTT; X linked; Xq28

Indexed keywords

GENE PRODUCT; METHYL CPG BINDING PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME XQ; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; DISEASE SEVERITY; FEMALE; GENE IDENTIFICATION; GENE ISOLATION; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HEMIZYGOSITY; HUMAN; MALE; MENTAL DEFICIENCY; NERVE CELL DIFFERENTIATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETT SYNDROME; RISK FACTOR; SEX DIFFERENCE; X CHROMOSOMAL INHERITANCE;

ALANINE; AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOMES, HUMAN, X; CPG ISLANDS; DNA-BINDING PROTEINS; FEMALE; GENETIC SCREENING; HAPLOTYPES; HETEROZYGOTE DETECTION; HUMANS; INFANT; MALE; MENTAL RETARDATION; METHYL-CPG-BINDING PROTEIN 2; MUTATION; PEDIGREE; REPRESSOR PROTEINS; RETT SYNDROME; VALINE;

EID: 0036389872     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10130     Document Type: Article

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