STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review

X-linked recessive ichthyosis (XLI) is clinically characterized by dark brown, widespread dryness with polygonal scales. We describe the identification of STS and PUDP deletions using targeted panel sequencing combined with copy-number variation (CNV) analysis in XLI. A 9-month-old infant was admitt...

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Detalles Bibliográficos
Autores principales: Park, Joonhong, Cho, Yong Gon, Kim, Jin Kyu, Kim, Hyun Ho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606178/
https://www.ncbi.nlm.nih.gov/pubmed/37895274
http://dx.doi.org/10.3390/genes14101925

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606178/
https://www.ncbi.nlm.nih.gov/pubmed/37895274
http://dx.doi.org/10.3390/genes14101925

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