Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis

INTRODUCTION: DSTYK encodes dual serine/threonine and tyrosine protein kinase. DSTYK has been associated with autosomal-dominant congenital anomalies of the kidney and urinary tract and with autosomal-recessive hereditary spastic paraplegia type 23. Here, we report a father and his two dizygotic twi...

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Detalles Bibliográficos
Autores principales: Vidic, Clara, Zaniew, Marcin, Jurga, Szymon, Thiele, Holger, Reutter, Heiko, Hilger, Alina C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8490499/
https://www.ncbi.nlm.nih.gov/pubmed/34608560
http://dx.doi.org/10.1186/s40348-021-00122-y

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