A review of Alström syndrome: a rare monogenic ciliopathy-Reference-Cited by-同舟云学术

A review of Alström syndrome: a rare monogenic ciliopathy

Published:2021-11-30 Issue:4 Volume:10 Page:257-262
ISSN:2186-361X
Container-title:Intractable & Rare Diseases Research
language:en
Short-container-title:IRDR

Author:

Roy Choudhury Avijoy¹,Munonye Ifeanyi²,Sanu Kevin Paul¹,Islam Nipa³,Gadaga Cecilia⁴

Affiliation:

1. UWA Medical School, The University of Western Australia, Perth, WA, Australia.

2. Uniwersytet Jagielloński Collegium Medicum, Kraków, Poland.

3. Dhaka Medical College, Dhaka, Bangladesh.

4. Texila American University, Georgetown, Guyana.

Publisher

International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)

Subject

General Medicine

Link

https://www.jstage.jst.go.jp/article/irdr/10/4/10_2021.01113/_pdf

Reference43 articles.

1. 1. Alstrom CH, Hallgren B, Nilsson LB, Asander H. 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. Acta Psychiatr Neurol Scand Suppl. 1959; 129:1-35.

2. 2. Marshall JD, Beck S, Maffei P, Naggert JK. Alstrom syndrome. Eur J Hum Genet. 2007; 15:1193-1202.

3. 3. Ding Y, Zhang Q, He Y, Zhang L, Li N, Chang G, Chen Y, Wang J, Wu J, Fu L, Wang X. Analysis of ALMS1 gene variants in seven patients with Alstrom syndrome. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021; 38:112-116. (in Chinese)

4. 4. Marshall JD, Maffei P, Collin GB, Naggert JK. Alstrom syndrome: genetics and clinical overview. Curr Genomics. 2011; 12:225-235.

5. 5. Marshall JD, Maffei P, Beck S, Barrett TG, Paisey R, Naggert JK. Clinical utility gene card for: Alstrom Syndrome - update 2013. Eur J Hum Genet. 2013; 21(11).

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