Saudi J Biol Sci
Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients.
Kamal NM, Sahly AN, Banaganapalli B, Rashidi OM, Shetty PJ, Al-Aama JY, Shaik NA, Elango R, Saadah OI
Alström syndrome (AS, OMIM ID 203800) is a rare childhood multiorgan disorder, which is widely studied in non-Arab ethnic patients. The clinical and m ...
Read More
Source: PubMed
Strabismus 2019 Dec 31
Nystagmus with pendular low amplitude, high frequency components (PLAHF) in association with retinal disease.
Wang P, Ya P, Li D, Lv S, Yang D
Purposes: To establish a relation between pendular low amplitude high frequency (PLAHF) components and congenital retinal disorders.Methods: Patients ...
Read More
Source: PubMed
JCI Insight
MetAP2 inhibition reduces food intake and body weight in a ciliopathy mouse model of obesity.
Pottorf TS, Fagan MP, Burkey BF, Cho DJ, Vath JE, Tran PV
The ciliopathies Bardet-Biedl syndrome and Alström syndrome are genetically inherited pleiotropic disorders with hyperphagia and obesity as primary cl ...
Read More
Source: PubMed
BMC Ophthalmol
A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants.
Shurygina MF, Parker MA, Schlechter CL, Chen R, Li Y, Weleber RG, Yang P, Pennesi ME
Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairme ...
Read More
Source: PubMed
