3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability
نویسندگان
چکیده
منابع مشابه
Author's response to reviews Title:Intergenerational and Intrafamilial Phenotypic Variability in 22q11.2 Deletion syndrome Subjects Authors:
Emilia Cirillo ([email protected]) Giuliana Giardino ([email protected]) Vera Gallo ([email protected]) Pamela Puliafito ([email protected]) Chiara Azzari ([email protected]) Rosa Bacchetta ([email protected]) Fabio Cardinale ([email protected]) Maria Pia Cicalese ([email protected]) Rita Consolini ([email protected]) Silvana Martino (s...
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We analysed the clinical history of 16 hemizygous males affected by Anderson-Fabry Disease, from four families, to verify their intrafamilial phenotypic variability. Seven male patients, ranging from 26 to 61 years of age, died, whereas nine (age range 23-55) are alive. Eleven patients have undergone enzyme replacement therapy (ERT) for a period of 5-10 years. We have found a wide range of intr...
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ژورنال
عنوان ژورنال: European Journal of Medical Genetics
سال: 2015
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2015.01.008