Angelman syndrome

15q11-q13, Xq28, etc. GeneReviews Google OMIM Orphanet PubMed Who named it? Wikipedia

Angelman syndrome

*Gene map locus 15q11-q13, Xq28, etc.

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


Angelman syndrome
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Edited by Aldo Campana, August 21, 2012