[1] Alstrom C H,Hallgren B,Nilsson L B,et al. Retinal degeneration combined with obesity,diabetes
mellitus and neurogenous deafness: a specific syndrome(not hitherto described)distinct from the
Laurence-Moon-Bardet-Biedl syndrome: a clinical,endocrinological and genetic examination based on a
large pedigree[J]. Acta Psychiatr Neurol Scand Suppl,1959,129(1):1
[2] Cruz-Aguilar M,Galaviz-Hernández C,Hiebert-Froese J,et al. A nonsense ALMS1 mutation underlies
alstr?觟m syndrome in an extended Mennonite kindred settled in North Mexico[J]. Genet Test Mol
Biomarkers,2017,21(6):397
[3] Hearn T. ALMS1 and Alstr?觟m syndrome: a recessive form of metabolic,neurosensory and cardiac
deficits[J]. J Mol Med (Berl),2019,97(1):1
[4] Waldman M,Han J C,Reyes-Capo D P,et al. Alstr?觟m syndrome: renal findings in correlation with
obesity,insulin resistance,dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at
the NIH clinical center[J]. Mol Genet Metab,2018,125(1/2):181
[5] ?魣lvarez-Sm ?魣,Castro-Ss C,Valverde D. Alstr?觟m syndrome: current perspectives [J]. Appl
Clin Genet,2015,21(8):171
[6] Priya S,Nampoothiri S,Sen P,et al. Bardet-Biedl syndrome: genetics,molecular pathophysiology
,and disease management[J]. Indian J Ophthalmol,2016,64(9):620
[7] 蔡清霞,常国营,丁宇,等. 儿童Alstrom综合征1例报告及文献复习[J]. 临床儿科杂志,2017,35(4):278
[8] Marshall J D,Muller J,Collin G B,et al. Alstr?觟m syndrome: mutation spectrum of ALMS1[J]. Hum
Mutat,2015,36(7):660
[9] Tsai M C,Yu H W,Liu T,et al. Rare compound heterozygous frameshift mutations in ALMS1 gene
identified through exome sequencing in a taiwanese patient with alstr?觟m syndrome[J]. Front Genet,
2018,9:110
[10] 匡蕾,王炜,叶山东,等.Alstrom综合征一例[J].中华糖尿病杂志,2013,5(3):189
[11] Casey J,Mcgettigan P,Brosnahan D,et al. Atypical Alstrom syndrome with novel ALMS1 mutations
precluded by current diagnostic criteria[J]. Eur J Med Genet,2014,57(2/3):55
[12] Manara R,Citton V,Maffei P,et al. Degeneration and plasticity of the optic pathway in Alstr?觟m
syndrome[J]. AJNR Am J Neuroradiol,2015,36(1):160
[13] 张倩文.Alstrom综合征的发病机制及诊治进展[J]. 国际儿科学杂志,2020,47(1):59