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Tags: gene mutation

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Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis

Background: Nephropathic cystinosis is an autosomal recessive disease caused by a mutation in the CTNS gene which encodes cystinosin, a lysosomal cystine transporter. The spectrum of mutations in the CTNS gene is not well defined in the North African…

Tags: 2023, 2023 SE5 - Low Resource Setting, Achour A, Article, Ben Youssef S, bicarbonate/dt [Drug Therapy], bicarbonate/pv [Special Situation for Pharmacovigilance], calcitriol/dt [Drug Therapy], calcitriol/pv [Special Situation for Pharmacovigilance], Child, citrate potassium/dt [Drug Therapy], citrate potassium/pv [Special Situation for Pharmacovigilance], Clinical Article, Clinical Feature, Controlled Study, CTNS gene, cystine/ec [Endogenous Compound], cystinosis/di [Diagnosis], cystinosis/dt [Drug Therapy], El Younsi M, exon, Fanconi renotubular syndrome, Female, founder mutation, Gargah T, gene, Gene Deletion, gene mutation, genetic analysis, genetic trait, Hammi Y, heterozygosity, homozygosity, Human, hypothyroidism/dt [Drug Therapy], Infant, infantile nephropathic cystinosis/di [Diagnosis], infantile nephropathic cystinosis/dt [Drug Therapy], Information Processing, Kharrat M, kidney disease/di [Diagnosis], kidney disease/dt [Drug Therapy], M'Rad R, Maazoul F, Male, mercaptamine/dt [Drug Therapy], mercaptamine/pv [Special Situation for Pharmacovigilance], molecular diagnosis, molecular fingerprinting, Only Child, Ouertani I, Palliative Therapy, Pediatric Nephrology, pediatric patient, Prenatal Diagnosis, Preschool Child, Retrospective Study, RNA splicing, Sanger sequencing, thyroid hormone/dt [Drug Therapy], thyroid hormone/pv [Special Situation for Pharmacovigilance], Trabelsi M, Tunisian

Sleep disorders in Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by growth retardation, intellectual disability, limb defects, typical facial dysmorphism, and other systemic involvement. Sleep disturbances have been frequently reported in…

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