Next-Generation Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Combined Features of Spherocytosis and Antley-Bixler Syndrome With Genital Anomalies and Disordered Steroidogenesis

Conventionally, patients with combined rare diseases are often difficult to diagnose. This is because some clinicians tend to consider the multiple disease symptoms as the presentation of a complicated “syndrome.” This pattern of thinking also confines their way of filtering pathogenic mutations. So...

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Detalles Bibliográficos
Autores principales: Song, Fuying, Feng, Shunqiao, Shen, Xiang, Du, Mu, Yin, Hui, Liu, Rong, Chen, Xiaobo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7472872/
https://www.ncbi.nlm.nih.gov/pubmed/32973886
http://dx.doi.org/10.3389/fgene.2020.00976

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7472872/
https://www.ncbi.nlm.nih.gov/pubmed/32973886
http://dx.doi.org/10.3389/fgene.2020.00976

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