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Article

C-terminal truncated SPOP, a Janus-faced variant, causing a mixed type 1 and type 2 Nabais Sa-de Vries syndrome.

Clinica chimica acta; international journal of clinical chemistry - 1 Oct 2022

Law Chun-Yiu, Lam Ching-Wan

Abstract excerpt

Nabais Sa-de Vries syndrome (NSDVS) is an autosomal dominant neurodevelopmental disorder first described in 2020 and is classified into type 1 (NSDVS1) and type 2 (NSDVS2) which encompassed of spectrum of distinct clinical features due to gain-of-function (GOF) and loss-of-function (LOF) variants respectively. So far only 6 cases of 5 different missense pathogenic variants had been reported which impact on the...

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PMID: 36063898
DOI: 10.1016/j.cca.2022.08.019

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