A Novel MECP2 Mutation in a Boy with Neonatal Encephalopathy and Facial Dysmorphism

Journal of Pediatrics

Volumn 155, Issue 1, 2009, Pages 140-143

  Jülich, Kristina ^a   Horn, Denise ^a   Burfeind, Peter ^b   Erler, Thomas ^c   Auber, Bernd ^b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

^c Carl Thiem Hospital Cottbus   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DYSPNEA; ELECTROENCEPHALOGRAM; FACE DYSMORPHIA; GENE MUTATION; GENE SEQUENCE; HUMAN; KARYOTYPE; LABORATORY TEST; MALE; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; MYOCLONUS; PRIORITY JOURNAL; RETT SYNDROME;

CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FRAMESHIFT MUTATION; HUMANS; INFANT; MALE; METHYL-CPG-BINDING PROTEIN 2; MICROCEPHALY; MUSCLE HYPOTONIA; POLYSOMNOGRAPHY; RETT SYNDROME;

EID: 67649786475     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2009.01.035     Document Type: Article

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