The Diverse Genetic Landscape of Hearing Impairment in South African Families
Clinical Genetics, Volume 108, Issue 5, Page 511-520, November 2025.South African Families with Nonsyndromic (N = 24) and Syndromic Hearing Impairment (N = 21) with ≥ 2 affected members were analyzed. The underlying etiology was uncovered using exome and Sanger sequencing for 31 of these families. ABSTRACT To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and ...
Thashi Bharadwaj +10 more
wiley +1 more source
Prevention of cardiac arrhythmias in pediatric patients with normotensive-hypokalemic tubulopathy: Current attitude among European pediatricians [PDF]
, 2018 Potassium deficiency predisposes to cardiac arrhythmias culminating in syncope or sudden death. Because of the uncertainty related to the possible occurrence of such cardiac arrhythmias in the context of normotensive-hypokalemic tubulopathies, 19 ...
Bettinelli, Alberto +3 more
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Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations [PDF]
, 2019 In higher organisms, epithelia separate compartments in order to guarantee their proper function. Such structures are able to seal but also to allow substances to pass.
Fernández-Rodríguez, Cármen +3 more
core +1 more source
Exuberant calcinosis and acroosteolysis. A diagnostic challenge [PDF]
, 2009 A case of exuberant acroosteolysis and subcutaneous tissue calcinosis in the absence of skin involvement is presented.
Ambrósio, C +4 more
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Failure to Thrive, Can this be Bartter’s Syndrome?
Journal of the Dow University of Health Sciences, 2011 A case series of four children, of different age groups, having complaints of polyuria and failure to thrive.These cases include two infants, a toddler and a child and investigations revealed that they had hyponatremia,hypokalemia, hyperchloremia and metabolic alkalosis, leading to a diagnosis of Bartters syndrome.
openaire +1 more source
Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria [PDF]
, 2017 Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic penetrance of the porphyrias is clinically variable, underscoring the role of additional ...
Baker, Tania +14 more
core +3 more sources
Bilateral cochlear implantation in infantile Bartter's syndrome. [PDF]
BMJ Case Rep, 2023 Mohanraj L, Saravanam PK.
europepmc +1 more source
A Case of a Novel MAGED2 Mutation Resulting in Non-transient Bartter's Syndrome in an Adult Female. [PDF]
Cureus, 2023 Albaba I, Azher S, Mehta S, Faddoul G.
europepmc +1 more source
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. [PDF]
, 2014 BACKGROUND: Familial renal hypouricemia (RHUC) is a hereditary disease characterized by hypouricemia, high renal fractional excretion of uric acid (FE-UA) and can be complicated by acute kidney failure and nephrolithiasis.
Cancarini, Giovanni +9 more
core +1 more source
Correction: A Case of a Novel MAGED2 Mutation Resulting in Non-transient Bartter's Syndrome in an Adult Female. [PDF]
Cureus, 2023 Albaba I, Azher S, Mehta S, Faddoul G.
europepmc +1 more source