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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Hlavní autoři:	Xicui Long, Wenyu Xiong, Xuegang Wang, Jia Geng, Mingjun Zhong, Yu Huang, Man Liu, Fengxiao Bu, Jing Cheng, Yu Lu, Huijun Yuan
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2024-08-01
Edice:	BMC Medical Genomics
Témata:	ABHD12 PHARC syndrome Genotype-phenotype associations Cochlear implant
On-line přístup:	https://doi.org/10.1186/s12920-024-01984-7
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