Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome

Clinical Genetics

Volumn 73, Issue 3, 2008, Pages 257-261

  Takahashi, Satoru ^a   Ohinata, J ^a   Makita, Y ^a   Suzuki, N ^a   Araki, A ^a   Sasaki, A ^b   Murono, K ^b   Tanaka, H ^a   Fujieda, K ^a  

^a ASAHIKAWA MEDICAL COLLEGE   (Japan)

^b NAYORO CITY UNIVERSITY   (Japan)

Author keywords

MECP2; Mutation; Rett syndrome; X chromosome inactivation

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ARTICLE; BLUNTED AFFECT; CASE REPORT; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE CARRIER; DISEASE TRANSMISSION; ELECTROENCEPHALOGRAM; FEMALE; GENETIC RISK; GENETIC SCREENING; GERM LINE; HEAD CIRCUMFERENCE; HETEROZYGOTE; HUMAN; MICROCEPHALY; MISSENSE MUTATION; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; RISK ASSESSMENT; SEIZURE; STRABISMUS; TREMOR; UNCONSCIOUSNESS; X CHROMOSOME INACTIVATION;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; INFANT; METHYL-CPG-BINDING PROTEIN 2; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; PHENOTYPE; RETT SYNDROME; X CHROMOSOME INACTIVATION;

EID: 38949088605     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00944.x     Document Type: Article

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