PEHO and PEHO-like syndromes: Report of five Australian cases

American Journal of Medical Genetics

Volumn 122 A, Issue 1, 2003, Pages 6-12

  Field, M J ^a,h   Grattan Smith, P ^a   Piper, S M ^a   Thompson, E M ^b   Haan, E A ^b   Edwards, M ^c,d   James, S ^e   Wilkinson, I ^f   Ades L C ^a,g  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^c Hunter Genetics   (Australia)

^d UNIVERSITY OF NEWCASTLE   (Australia)

^e FLINDERS MEDICAL CENTRE   (Australia)

^f JOHN HUNTER HOSPITAL   (Australia)

^g UNIVERSITY OF SYDNEY   (Australia)

^h SYDNEY CHILDREN'S HOSPITAL   (Australia)

Author keywords

Hypsarrhythmia; Oedema; Optic atrophy; Progressive encephalopathy

Indexed keywords

ARTICLE; AUSTRALIA; BRAIN ATROPHY; BRAIN DISEASE; BRAIN STEM; CEREBELLUM ATROPHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONVULSION; FACE DYSMORPHIA; FEMALE; HUMAN; HYPSARRHYTHMIA; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NEURORADIOLOGY; OPTIC NERVE ATROPHY; PEHO SYNDROME; PERIPHERAL EDEMA; PRIORITY JOURNAL; SYMPTOM; SYNDROME;

EID: 0042318529     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20216     Document Type: Article

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