Alstrom syndrome: Case report of a rare genetic disease with potentially lethal complications [PDF]
, 2013 Alstrom syndrome (AS) is a rare autosomal recessive genetic disorder characterized by multiorgan dysfunction. We report a 20-year-old obese Saudi male who presented with congestive heart failure.
Khalid, M. Rizwan, Neem, Kashif Bin
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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.
Lixin Shi, Lanrong Liu, Hong Li
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The Alstrom syndrome: ophthalmic histopathology and retinal ultrastructure. [PDF]
British Journal of Ophthalmology, 1984 A case of pigmentary retinal degeneration causing blindness in early childhood, progressive neurosensory hearing loss, diabetes mellitus, acanthosis nigricans, hypogonadism with normal secondary sex characteristics, and kyphoscoliosis without polydactyly and with no mental retardation is reported.
Daniel M. Albert +2 more
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Homozygosity Mapping of Alstrom Syndrome to Chromosome 2p [PDF]
Human Molecular Genetics, 1997 Alström syndrome is a rare autosomal recessive disorder characterized by pigmentary retinal degeneration, sensorineural hearing loss, childhood obesity, non-insulin-dependent diabetes mellitus, hyperlipidemia and chronic nephropathy. Features occasionally observed include acanthosis nigricans, hypogonadism, hypothyroidism, alopecia, short stature and ...
Collin, G B +3 more
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ALSTROM Syndrome (Cases presentation and review of literature)
International Journal of Pediatrics and Neonatal Health, 2017 Abdulaziz Al-Kaabi
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A novel variant site of Alstrom syndrome in a Chinese child: a case report. [PDF]
Transl Pediatr, 2022 Xu R, Zhou H, Fang F, Qiu L, Liu X.
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Genetic obesity: an update with emerging therapeutic approaches [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2022 Based on the genetic contribution, childhood obesity can be classified into 3 groups: common polygenic obesity, syndromic obesity, and monogenic obesity.
Young Bae Sohn
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Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome. [PDF]
J Mol Med (Berl), 2021 Zhao Y +24 more
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Alstrom Syndrome with a Mutation in Exon8 (C.4746C > A) of Alstrom Syndrome Protein 1 Gene: The First Case Report and Literature Review [PDF]
Journal of Diabetes and Obesity, 2017 Masayasu Yoneda, Ommega Internationals
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