Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion

Journal of Medical Genetics

Volumn 33, Issue 2, 1996, Pages 107-112

  Smith, A ^a   Wiles, C ^a   Haan, E ^b   McGill, J ^c   Wallace, G ^d   Dixon, J ^e   Selby, R ^e   Colley, A ^f   Marks, R ^g   Trent, R J ^h  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^c Queensland Children's Hospital   (Australia)

^d MATER HOSPITAL   (Australia)

^e WELLINGTON HOSPITAL   (New Zealand)

^f Hunter Genetics   (Australia)

^g STARSHIP CHILDREN S HOSPITAL   (New Zealand)

^h ROYAL PRINCE ALFRED HOSPITAL   (Australia)

Author keywords

Chromosome 15(q11 13); Epilepsy; Intellectual delay; Pigmentation

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATAXIA; BIRTH WEIGHT; CHILD; CHROMOSOME 15Q; CLINICAL ARTICLE; CLINICAL FEATURE; EPILEPSY; FEEDING DISORDER; FEMALE; GENE DELETION; HAPPY PUPPET SYNDROME; HEAD CIRCUMFERENCE; HUMAN; HUMAN CELL; HYPOPIGMENTATION; MALE; MUSCLE HYPOTONIA; OCULOCUTANEOUS ALBINISM; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SPEECH DISORDER;

EID: 19144363371     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.2.107     Document Type: Article

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