Case Report: Complete Maternal Uniparental Isodisomy of Chromosome 5 (iUPD(5)mat) With PCSK1 Nonsense Variant in an Infant With Recurrent Diarrhea

Congenital diarrhea diseases are a heterogeneous group of conditions and are the major cause of neonatal mortality worldwide. Proprotein convertase 1/3 (PC1/3) deficiency has been associated with severe malabsorptive diarrhea, obesity, and certain endocrine abnormalities. We report an infant born to...

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Detalles Bibliográficos
Autores principales: Qian, Yanyan, Wu, Bingbing, Liu, Renchao, Lu, Yulan, Zhang, Ping, Shao, Caihong, Huang, Ying, Wang, Huijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8134681/
https://www.ncbi.nlm.nih.gov/pubmed/34025722
http://dx.doi.org/10.3389/fgene.2021.668326

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8134681/
https://www.ncbi.nlm.nih.gov/pubmed/34025722
http://dx.doi.org/10.3389/fgene.2021.668326

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