Alström syndrome caused by maternal uniparental disomy

Alström syndrome caused by maternal uniparental disomy

Purpose: To describe a case of Alström syndrome arising from maternal uniparental disomy. Observations: A 13-month-old boy with poor vision and nystagmus was diagnosed with Alström syndrome based on genetic testing that identified a homozygous pathogenic variant, ALMS1 c.2141_2141del (p.Ser714Tyrfs*...

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Bibliographic Details
Main Authors: Madeline Q.R. Lopour, Lisa A. Schimmenti, Nicole J. Boczek, Hutton M. Kearney, Arlene V. Drack, Michael C. Brodsky
Format: Article
Language:English
Published: Elsevier 2023-03-01
Series:American Journal of Ophthalmology Case Reports
Subjects:
Alstrom syndrome
Nystagmus
Uniparental disomy
Online Access:http://www.sciencedirect.com/science/article/pii/S2451993622004911

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http://www.sciencedirect.com/science/article/pii/S2451993622004911

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