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Article

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

BMC medical genomics - 9 Aug 2024

Long Xicui, Xiong Wenyu, Wang Xuegang, Geng Jia, Zhong Mingjun, Huang Yu, Liu Man, Bu Fengxiao, Cheng Jing, Lu Yu, Yuan Huijun

Abstract excerpt

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 previously unreported functional ABHD12 variants in two Chinese families and explored the correlation between genetic...

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Identifiers

PMID: 39123271
DOI: 10.1186/s12920-024-01984-7
PMCID: PMC11312174

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