منابع مشابه
Intrafamilial phenotypic variability in four families with Anderson-Fabry disease.
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...
متن کاملIntrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.
OBJECTIVES/HYPOTHESIS Enlarged vestibular aqueduct (EVA) and hearing loss are known to be caused by SLC26A4 mutations, but large phenotypic variability exists among patients with biallelic SLC26A4 mutations. Intrafamilial phenotypic variability was analyzed in multiplex EVA families carrying biallelic SLC26A4 mutations to identify the contribution of SLC26A4 mutations and other genetic or envir...
متن کاملA novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D
Background: Arrhythmogenic ventricular cardiomyopathy (AVC) is an inherited cardiac disorder affecting 1 in 1000 individuals worldwide. The mean diagnosed age of disease is 31 years. In this article, an Iranian family reported that they were affected by ARVC due to a novel PKP2 mutation. Methods: Clinical evaluations, 12-lead ECG, CMR, and signal-averaged ECG were performed. After...
متن کاملEvolution of intrafamilial interactions.
A theory for the evolution of behavioral interactions among relatives is developed that allows for genetic correlations between the types of behavior that are expressed in different social contexts. Both theoretical and empirical considerations indicate that such genetic constraints will almost certainly be common in natural populations. It is shown that when genetic correlations between elemen...
متن کاملIntrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing.
During limb development, the spatio-temporal expression of sonic hedgehog (SHH) is driven by the Zone of polarizing activity Regulatory Sequence (ZRS), located 1 megabase upstream from SHH. Gain-of-function mutations of this enhancer, which cause ectopic expression of SHH, are known to be responsible for congenital limb malformations with variable expressivity, ranging from preaxial polydactyly...
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ژورنال
عنوان ژورنال: Kidney International Reports
سال: 2019
ISSN: 2468-0249
DOI: 10.1016/j.ekir.2019.04.018