Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome via Exome Sequencing and Low-Coverage Whole-Genome Sequencing

Nagashima-type palmoplantar keratoderma (NPPK) is characterized by non-progressive, diffuse, and cross-gradient hyperkeratosis caused by mutations in the SERPINB7 gene on chromosome 18q21.33. Chromosome 18q deletion syndrome (18q- syndrome) is a terminal deletion or microdeletion syndrome characteri...

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Detalles Bibliográficos
Autores principales: Li, Qianqian, Zhu, Xiaofan, Wang, Conghui, Meng, Jingjing, Chen, Duo, Kong, Xiangdong
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/PMC8488357/
https://www.ncbi.nlm.nih.gov/pubmed/34616427
http://dx.doi.org/10.3389/fgene.2021.707411

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