Infant Alstrom syndrome diagnosed by a new gene mutation: a case report [PDF]
Journal of International Medical Research, 2023 Alstrom syndrome is a rare autosomal recessive disorder resulting from an ALMS1 gene mutation. Here, we present the clinical data of a case of an infant diagnosed with Alstrom syndrome through whole-exome sequencing.
Yujiao Ye +4 more
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Persistent Prothrombotic State in a Patient With Alström Syndrome [PDF]
JACC: Case ReportsWe present the case of a patient with Alström syndrome who was found to have evidence of a prothrombotic state on autopsy after sudden cardiac death. To the best of our knowledge, this case of persistent prothrombotic milieu is the first described in a ...
Nihit Shah, BMBS, BMedSci +4 more
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Neovascularization of the optic disc and peripheral retinal ischemia in a child with a novel variant in ALMS1 (Alström syndrome) [PDF]
American Journal of Ophthalmology Case Reports, 2022 Purpose: The ophthalmologic findings in Alström syndrome include cone-rod dystrophy, optic atrophy, optic disc drusen, and retinal telangiectasias with exudative retinopathy.
Melinda Y. Chang +3 more
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A Rare Syndromic Report of a Young Patient with Type 2 Diabetes Mellitus: Alstrom Syndrome
Case Reports in Clinical PracticeAlström syndrome is a rare multi-system congenital disorder with varied phenotypic presentations, including obesity, early-onset blindness, hearing loss, and various cardiac and renal manifestations.
Apoorva Suran, Jaideep Khare
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New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome [PDF]
BMC Ophthalmology, 2022 Purpose Alström Syndrome (AS) is an autosomal recessive hereditary disease with the characteristics of multiorgan dysfunction. Due to the heterogeneity of clinical manifestations of AS, genetic testing is crucial for the diagnosis of AS.
Wan-Yu Cheng +5 more
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Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy [PDF]
Orphanet Journal of Rare Diseases, 2022 Objective Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder that is caused by homozygous or compound heterozygous mutation in the ALMS1 gene. Dilated cardiomyopathy (DCM) is one of the well-recognized features of the syndrome ranging
Savas Dedeoglu +5 more
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A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. [PDF]
PLoS Genetics, 2007 Premature truncation alleles in the ALMS1 gene are a frequent cause of human Alström syndrome. Alström syndrome is a rare disorder characterized by early obesity and sensory impairment, symptoms shared with other genetic diseases affecting proteins of ...
Guochun Li +8 more
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New variants of ALMS1 gene and familial Alström syndrome case series [PDF]
Brazilian Journal of OtorhinolaryngologyObjectives: To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two pairs of siblings with Alström syndrome.
Isabela Carvalho de Queiroz +6 more
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A review on Alstrom Syndrome [PDF]
International Journal of Science and Research Archive, 2023 Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction.
RENATT C FRANCIS +4 more
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Alstrom Syndrome with Novel ALMS1 Mutations: A Case Report [PDF]
Experimental and Clinical Endocrinology & Diabetes Reports, 2017 Abstract Objective To report novel mutations of ALMS1 and evaluate clinical characteristics in the Chinese Child with Alstrom syndrome (ALMS). Methods The Child and his parents were examined clinically and venous blood was collected. ALMSl gene analysis was carried out using DNA Sanger sequencing.
Lanrong Liu, Hong Li, Lixin Shi
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