Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants

Abstract Background A comprehensive understanding of the genetic basis of rare diseases and their regulatory mechanisms is essential for human molecular genetics. However, the genetic mutant spectrum of pathogenic genes within the Chinese population remains underrepresented. Here, we reported previo...

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Detalhes bibliográficos

Principais autores:	Xicui Long, Wenyu Xiong, Xuegang Wang, Jia Geng, Mingjun Zhong, Yu Huang, Man Liu, Fengxiao Bu, Jing Cheng, Yu Lu, Huijun Yuan
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2024-08-01
coleção:	BMC Medical Genomics
Assuntos:	ABHD12 PHARC syndrome Genotype-phenotype associations Cochlear implant
Acesso em linha:	https://doi.org/10.1186/s12920-024-01984-7
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