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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Detalles Bibliográficos
Autores principales: Lopour, Madeline Q.R., Schimmenti, Lisa A., Boczek, Nicole J., Kearney, Hutton M., Drack, Arlene V., Brodsky, Michael C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829691/
https://www.ncbi.nlm.nih.gov/pubmed/36636630
http://dx.doi.org/10.1016/j.ajoc.2022.101745

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829691/
https://www.ncbi.nlm.nih.gov/pubmed/36636630
http://dx.doi.org/10.1016/j.ajoc.2022.101745

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