Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐like<scp>BBS6</scp>, 10, and 12 proteins-Reference-Cited by-同舟云学术

Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐likeBBS6, 10, and 12 proteins

Published:2022-03 Issue:1 Volume:190 Page:9-19
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:American J of Med Genetics Pt C

Author:

Gupta Neha¹²,D'Acierno Mariavittoria¹²^ORCID,Zona Enrica¹,Capasso Giovambattista²,Zacchia Miriam¹^ORCID

Affiliation:

1. Unit of Nephrology, Department of Translational Medical Sciences University of Campania L. Vanvitelli Naples Italy

2. BioGem S.C.A.R.L. Benevento Benevento Province Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31970

Reference68 articles.

1. Hypokalemic paralysis and megaloblastic anaemia in Laurence‐Moon‐Bardet‐Biedl syndrome;Abbasi A.;Journal of the College of Physicians and Surgeons–Pakistan,2009

2. Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12)

3. New criteria for improved diagnosis of Bardet–Biedl syndrome: Results of a population survey;Beales P. L.;Journal of Medical Genetics,1999

4. Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia

5. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

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