Biallelic HMGXB4 loss-of-function variant causes intellectual disability, developmental delay, and dysmorphic features

Background: HMGXB4 (additionally known as HMG2L1) is a non-histone DNA-binding protein that contains a single HMG-box domain. HMGXB4 was originally described in Xenopus where it was seen to negatively regulate the Wnt/β-catenin signaling pathway. Materials and methods: In this study, we conducted a...

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Detalhes bibliográficos

Principais autores:	Fuad Al Mutairi, Faisal Joueidi, Maha Alshalan, Essra Aloyouni, Mariam Ballow, Mohammed Aldrees, Abdulkareem Al Abdulrahman, Abeer Al Tuwaijri, Safdar Abbas, Muhammad Umair, Majid Alfadhel
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2024-08-01
coleção:	Heliyon
Assuntos:	HMGXB4 Autosomal recessive Intellectual disability Novel gene GDD Frameshift variant
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S2405844024113928
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