Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene

Clinical Genetics

Volumn 69, Issue 4, 2006, Pages 319-326

  Bartholdi, Deborah ^a   Klein, A ^a   Weissert, M ^b   Koenig, N ^a   Baumer, A ^a   Boltshauser, E ^a   Schinzel, A ^a   Berger, W ^a   Matyas G ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b CANTONAL HOSPITAL ST GALLEN   (Switzerland)

Author keywords

Clinical severity score; Exon1; Isoform; MECP2; Multiplex ligation dependent probe amplification; Rett syndrome

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; EXONS; FEMALE; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; RETT SYNDROME; SEQUENCE DELETION;

ATAXIA;

EID: 33645471446     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00604.x     Document Type: Article

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