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Autor:
Muhammad Matloob Alam, Abdulrhman Alathaibi, Badriah Gharamah Alasmari, Mohammad Aljabri, Muhammad Kashif, Riffat Matloob, Mustafa Mohamed Selim
Publikováno v:
Clinical Pediatric Hematology-Oncology, Vol 31, Iss 1, Pp 14-19 (2024)
Nabais Sa-de Vries syndrome (NSDVS) is a neurodevelopmental disorder first described in 2020. The syndrome is caused by de novo missense mutations in speckle-type pox virus and zinc finger protein (SPOP) on chromosome 17q21. In this report, we presen
Externí odkaz:
https://doaj.org/article/310f13e278a34e03a2b341bbe27c9681