Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole‐exome sequencing
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DOI: 10.1002/mgg3.1150
Abstract: The aim of this study was to identify the genetic causes of patients with hypertrophic cardiomyopathy (HCM) within a family. Most of the previous studies found point mutations as the genetic causes for HCM, whole‐gene… read more here.
Keywords: potential digenic; inheritance familial; digenic inheritance; hypertrophic cardiomyopathy ... See more keywords
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.10.002
Abstract: AIM OF THE STUDY Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary and the familial forms of the disease. Mutations in… read more here.
Keywords: inheritance; digenic inheritance; tubular acidosis; renal tubular ... See more keywords
Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14
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DOI: 10.1111/bjd.15053
Abstract: Epidermolysis Bullosa Simplex (EBS) is a heritable skin fragility disease most commonly caused by autosomal dominant mutations in the genes encoding keratin 5 and keratin 14 (KRT5 & KRT14)1. Keratin 5 and 14 dimerise to… read more here.
Keywords: digenic inheritance; bullosa simplex; epidermolysis bullosa; krt5 krt14 ... See more keywords
Familial Acute Necrotizing Encephalopathy: Evidence From Next Generation Sequencing of Digenic Inheritance
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DOI: 10.1177/0883073820902308
Abstract: Infection-induced acute encephalopathies (IIAEs) are a group of neurologic disorders caused post infection. They are of 8 types, 6 of which are herpes specific, whereas IIAE3 and IIAE4 can be triggered by infections additional to… read more here.
Keywords: necrotizing encephalopathy; acute necrotizing; digenic inheritance; familial acute ... See more keywords
Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy
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DOI: 10.3390/medicina55010017
Abstract: Background and objectives: Dilated cardiomyopathy (DCM) is a rare cardiac disease characterised by left ventricular enlargement, reduced left ventricular contractility, and impaired systolic function. Childhood DCM is clinically and genetically heterogenous and associated with mutations… read more here.
Keywords: lama4; dcm; digenic inheritance; inheritance lama4 ... See more keywords