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Angelman syndrome

*Gene map locus 15q11-q13, Xq28, etc.
AS
Happy puppet syndrome
[Clinical features: mental retardation; ataxia; seizures; characteristic abnormal behaviors; severe limitations in speech and language; dysmorphic facial features]
[Inheritance: isolated cases]

Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation
Phenotypic and behavioral variability within Angelman Syndrome group with UPD
Epilepsy in patients with Angelman syndrome
American Journal of Human Genetics
Genetics and Molecular Biology
Italian Journal of Pediatrics

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling
Journal of Medical Genetics
Journal of Medical Genetics
Journal of Medical Genetics

Angelman syndrome: a review of the clinical and genetic aspects
Angelman syndrome: a review of the clinical and genetic aspects
Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect
Journal of Medical Genetics
Journal of Medical Genetics
Journal of Medical Genetics

Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome
Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15
Angelman syndrome
Journal of Medical Genetics
Journal of Medical Genetics
Medical Genetics

   
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Edited by Aldo Campana, July 4, 2014