Pitt-hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: A rare co-occurrence of 2 genetic disorders

Journal of Child Neurology

Volumn 27, Issue 12, 2012, Pages 1602-1606

  Ghosh, Partha S ^a   Friedman, Neil R ^a   Ghosh, Debabrata ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Charcot Marie Tooth disease; peripheral myelin protein 22 gene; Pitt Hopkins syndrome

Indexed keywords

LAXATIVE; PERIPHERAL MYELIN PROTEIN 22; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR 4; UNCLASSIFIED DRUG;

AREFLEXIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BREATHING DISORDER; CASE REPORT; CHARCOT MARIE TOOTH DISEASE TYPE 1A; CHILD; CHROMOSOME 18; CLINODACTYLY; COMORBIDITY; CONSTIPATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DYSPNEA; ELECTROENCEPHALOGRAPHY; EXON; FACE DYSMORPHIA; FACIES; FAMILY HISTORY; GENE DUPLICATION; GENE MUTATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYPERVENTILATION; LANGUAGE DISABILITY; MALE; MICROCEPHALY; MUSCLE ATROPHY; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PITT HOPKIN SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SEQUENCE ANALYSIS; STEREOTYPY; TONIC CLONIC SEIZURE; WALKER;

BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CHARCOT-MARIE-TOOTH DISEASE; ELECTROENCEPHALOGRAPHY; FACIES; HUMANS; HYPERVENTILATION; INFANT; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; TRANSCRIPTION FACTORS;

EID: 84863521829     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812437242     Document Type: Article

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