Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.

We report the molecular characterisation of two families with Angelman syndrome referred for prenatal diagnosis, in which atypical molecular findings resulted in counselling dilemmas. The first is a familial case of Angelman syndrome in which the two affected children have mutations which affect the...

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Main Authors: Gilbert, H L, Buxton, J L, Chan, C T, McKay, T, Cottrell, S, Ramsden, S, Winter, R M, Pembrey, M E, Malcolm, S
Formáid: Artigo
Teanga:Inglês
Foilsithe: 1997
Ábhair:
Research Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051027/
https://ncbi.nlm.nih.gov/pubmed/9279757
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