Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity
Sign Up to like & getrecommendations! Published in 2021 at "Endocrine"
DOI: 10.1007/s12020-021-02643-y
Abstract: Alström syndrome (ALMS) is a monogenic ultra-rare disorder with a prevalence of one per million inhabitants caused by pathogenic variants of ALMS1 gene. ALMS1 is located on chromosome 2p13, spans 23 exons and encodes a… read more here.
Keywords: insulin; ultra rare; alstr syndrome; type diabetes ... See more keywords
Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients
Sign Up to like & getrecommendations! Published in 2020 at "Saudi Journal of Biological Sciences"
DOI: 10.1016/j.sjbs.2019.09.006
Abstract: Alström syndrome (AS, OMIM ID 203800) is a rare childhood multiorgan disorder, which is widely studied in non-Arab ethnic patients. The clinical and molecular basis of AS and the mode of disease inheritance in consanguineous… read more here.
Keywords: whole exome; exome sequencing; rare biallelic; alstr syndrome ... See more keywords
Kidney Transplantation in Alström Syndrome: Case Report.
Sign Up to like & getrecommendations! Published in 2017 at "Transplantation proceedings"
DOI: 10.1016/j.transproceed.2017.02.018
Abstract: The Alström syndrome is a rare genetic disorder, inherited in an autosomal recessive manner. It has recently been classified as a ciliopathic disorder. Alström syndrome is a multiorgan pathology characterized by cone-rod dystrophy, hearing loss,… read more here.
Keywords: transplantation alstr; kidney transplantation; alstr syndrome; case ... See more keywords
Identification of ALMS1 pathogenic variants in Chinese patients with Alström syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2092759
Abstract: Dear Editor, Alström syndrome (ALMS, OMIM 203800) is a rare autosomal recessive disease with an estimated prevalence of 1–9 per 1,000,000 worldwide (1,2). It usually involves multiple organs and tissues including the eye, ear, kidney,… read more here.
Keywords: alms1 pathogenic; pathogenic variants; variants chinese; identification alms1 ... See more keywords
Alström syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Medicine"
DOI: 10.1097/md.0000000000006192
Abstract: Rationale: Alström syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others. Patient concern: A 10 years old Saudi girl, who presented with diabetic ketoacidosis and found to… read more here.
Keywords: hearing loss; loss blindness; alstr syndrome;
Ocular findings and genetic test in Alström syndrome in childhood.
Sign Up to like & getrecommendations! Published in 2022 at "Experimental eye research"
DOI: 10.2139/ssrn.4134470
Abstract: This study aimed to investigate the mutation spectrums and ocular features of Alström syndrome (AS) patients. Six AS patients from five unrelated families were included. Ocular and systemic examinations were performed in all subjects. Whole-exome… read more here.
Keywords: findings genetic; six patients; high hyperopia; ocular findings ... See more keywords
Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.808919
Abstract: Alström syndrome (ALMS) is a rare inherited metabolic disease and ciliopathy. Large cohorts of ALMS are lacking around the world. Detailed genetic and phenotypic data were obtained from all affected individuals. Olfactory function was evaluated… read more here.
Keywords: expansion alstr; alstr syndrome; alms patients; syndrome chinese ... See more keywords