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

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...

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Principais autores:	Muhammad Matloob Alam, Abdulrhman Alathaibi, Badriah Gharamah Alasmari, Mohammad Aljabri, Muhammad Kashif, Riffat Matloob, Mustafa Mohamed Selim
Format:	Artigo
Jezik:	Inglês
Izdano:	The Korean Society of Pediatric Hematology-Oncology 2024-04-01
Serija:	Clinical Pediatric Hematology-Oncology
Teme:	nabais sa-de vries syndrome spop hemoglobin genes thalassemia neurodevelopmental disorder microcytic hypochromic anemia
Online dostop:	http://www.cpho.or.kr/journal/view.html?doi=10.15264/cpho.2024.31.1.14
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