Nabais Sa-de Vries Syndrome and Thalassemia: An Undiscovered Concurrence of SPOP and HBB Genetic Mutation

• Главные авторы: Muhammad Matloob Alam (Автор), Abdulrhman Alathaibi (Автор), Badriah Gharamah Alasmari (Автор), Mohammad Aljabri (Автор), Muhammad Kashif (Автор), Riffat Matloob (Автор), Mustafa Mohamed Selim (Автор)
• Формат: ‌
• Опубликовано: The Korean Society of Pediatric Hematology-Oncology, 2024-04-01T00:00:00Z.
• Предметы: article
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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 present a four-year-old girl who had microcephaly, a lon...