Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion

Pediatric Research

Volumn 67, Issue 5, 2010, Pages 551-556

  Psoni, Stavroula ^a   Sofocleous, Christalena ^a   Traeger Synodinos, Joanne ^a   Kitsiou Tzeli, Sophia ^a   Kanavakis, Emmanuel ^a   Fryssira Kanioura, Helen ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ARTICLE; AUTISM; BRAIN DISEASE; CASE REPORT; CHILD; DNA POLYMORPHISM; DNA SEQUENCE; FRAGILE X SYNDROME; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MECP2 GENE; MENTAL DEFICIENCY; MOSAICISM; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RETT SYNDROME;

AUTISTIC DISORDER; CHILD; CHILD BEHAVIOR DISORDERS; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; KARYOTYPING; MALE; MENTAL RETARDATION; METHYL-CPG-BINDING PROTEIN 2; MOSAICISM; PEDIGREE; PHENOTYPE; POINT MUTATION; PSYCHOMOTOR DISORDERS; RETROSPECTIVE STUDIES; RETT SYNDROME; SEQUENCE DELETION; SEVERITY OF ILLNESS INDEX;

EID: 77951488558     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/PDR.0b013e3181d4ecf7     Document Type: Article

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