A novel variant in ALMS1 in a patient with Alström syndrome and prenatal diagnosis for the fetus in the family: A case report and literature review

Alström syndrome (AS) is a type of monogenic syndromic ciliopathy disease. The main clinical features of AS include cone-rod malnutrition, sensorineural hearing loss, metabolic dysfunctions and multiple organ failure, which are caused by mutations of Alström syndrome protein 1 (ALMS1) gene. The curr...

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Detalles Bibliográficos
Autores principales: Zhou, Cong, Xiao, Yuanyuan, Xie, Hanbing, Liu, Shanling, Wang, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7453607/
https://www.ncbi.nlm.nih.gov/pubmed/32945434
http://dx.doi.org/10.3892/mmr.2020.11398

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7453607/
https://www.ncbi.nlm.nih.gov/pubmed/32945434
http://dx.doi.org/10.3892/mmr.2020.11398

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