MECP2 triplication in 3 brothers - A rarely described cause of familial neurological regression in boys

European Journal of Paediatric Neurology

Volumn 16, Issue 2, 2012, Pages 209-212

  Tang, Shan S ^a   Fernandez, Daphin ^a   Lazarou, Lazarus P ^b   Singh, Rahul ^a   Fallon, Penny ^a  

^a ST GEORGE'S UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

MECP2; Neurological regression; Triplication; Xq28

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ADULT RESPIRATORY DISTRESS SYNDROME; ARTICLE; CASE REPORT; CAUSE OF DEATH; CHILD; CHOREOATHETOSIS; CLINICAL FEATURE; CONSTIPATION; DETERIORATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FAMILIAL DISEASE; GENE DOSAGE; GENE DUPLICATION; GENE IDENTIFICATION; GENE NUMBER; GENE TRIPLICATION; HETEROZYGOTE; HOSPITAL ADMISSION; HUMAN; INFANTILE HYPOTONIA; MACROCEPHALY; MALE; MENTAL DEFICIENCY; MULTIPLE ORGAN FAILURE; NEUROLOGIC DISEASE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RECURRENT INFECTION; RESPIRATORY TRACT INFECTION; SEIZURE; SIBLING; SOCIAL INTERACTION; SPASTICITY; TRACHEOBRONCHITIS;

ADOLESCENT; CONSTIPATION; DEVELOPMENTAL DISABILITIES; DISEASE PROGRESSION; EAR; FATAL OUTCOME; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MACROCEPHALY; MALE; METHYL-CPG-BINDING PROTEIN 2; MUSCLE HYPOTONIA; MUTATION; NERVOUS SYSTEM DISEASES; PHENOTYPE; RESPIRATORY TRACT INFECTIONS; SEIZURES;

EID: 84857356538     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2011.07.011     Document Type: Article

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