Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy

Journal of Medical Genetics

Volumn 34, Issue 5, 1997, Pages 426-429

  Smith, A ^a   Marks, R ^b   Haan, E ^c   Dixon, J ^d   Trent, R J ^e  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b STARSHIP CHILDREN S HOSPITAL   (New Zealand)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^d WELLINGTON HOSPITAL   (New Zealand)

^e ROYAL PRINCE ALFRED HOSPITAL   (Australia)

Author keywords

Chromosome 15(q11 13); Epilepsy; Imprinting; Intellectual disability

Indexed keywords

DNA MARKER;

ARTICLE; ATAXIA; CASE REPORT; CLINICAL FEATURE; DNA DETERMINATION; EPILEPSY; FEMALE; HAPPY PUPPET SYNDROME; HEAD CIRCUMFERENCE; HUMAN; HUMAN CELL; HYPERACTIVITY; MALE; NEUROLOGIC DISEASE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SIGN LANGUAGE; UNIPARENTAL DISOMY; WALKING;

ATAXIA;

EID: 0030963040     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.5.426     Document Type: Article

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