Severe congenital encephalopathy caused by MECP2 null mutations in males: Central hypoxia and reduced neuronal dendritic structure

Clinical Genetics

Volumn 74, Issue 2, 2008, Pages 116-126

  Schule B ^a   Armstrong, D D ^b   Vogel, H ^a   Oviedo, A ^c   Francke, Uta ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c KAISER PERMANENTE MEDICAL CENTER   (United States)

Author keywords

Apnea; Congenital encephalopathy; Germline mosaicism; MECP2; Methyl CpG binding protein 2; Reduced dendritic branching; Rett syndrome; Sholl analysis; Sudden infant death

Indexed keywords

ANTIBIOTIC AGENT; CAFFEINE; GENOMIC DNA; METHYL CPG BINDING PROTEIN 2; PHENOBARBITAL; RNA; SYNAPTOPHYSIN;

AIRWAY OBSTRUCTION; APNEA; ARTICLE; AUTOPSY; BRAIN DISEASE; BRAIN HYPOXIA; BREATHING DISORDER; BRONCHIOLITIS; CASE REPORT; CAUSE OF DEATH; CLINICAL FEATURE; CONTROLLED STUDY; DENDRITIC CELL; DNA DETERMINATION; DNA FLANKING REGION; EEG ABNORMALITY; EXON; FAILURE TO THRIVE; FRAMESHIFT MUTATION; GASTROESOPHAGEAL REFLUX; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HYPOVENTILATION; INFANT; INTRON; KARYOTYPE 46,XY; MALE; MUSCLE HYPOTONIA; NULL ALLELE; OXYGEN THERAPY; PHENOTYPE; PNEUMONIA; PRIORITY JOURNAL; RESPIRATORY FAILURE; RNA ANALYSIS; RNA SPLICING; SEIZURE; SKIN BIOPSY; STOP CODON;

AUTOPSY; BRAIN DISEASES, METABOLIC, INBORN; DENDRITES; DNA MUTATIONAL ANALYSIS; HUMANS; HYPOXIA, BRAIN; INFANT, NEWBORN; MALE; METHYL-CPG-BINDING PROTEIN 2; NEURONS; PHENOTYPE; RNA SPLICE SITES; SEQUENCE DELETION;

EID: 47249103934     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01005.x     Document Type: Article

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