Uniparental isodisomy caused autosomal recessive diseases: NGS‐based analysis allows the concurrent detection of homogenous variants and copy‐neutral loss of heterozygosity

BACKGROUND: Uniparental disomy (UPD) leading to autosomal recessive (AR) diseases is rare. We found an unusual homozygous state in two nonconsanguineous families, and only one parent in each family was a heterozygote. METHODS: Two patients with homozygosity for pathogenic variants were revealed by w...

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Detalles Bibliográficos
Autores principales: Xiao, Bing, Wang, Lili, Liu, Huili, Fan, Yanjie, Xu, Yan, Sun, Yu, Qiu, Wenjuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785455/
https://www.ncbi.nlm.nih.gov/pubmed/31454184
http://dx.doi.org/10.1002/mgg3.945

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785455/
https://www.ncbi.nlm.nih.gov/pubmed/31454184
http://dx.doi.org/10.1002/mgg3.945

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