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[BCS1Neonatal growth retardation and lactic acidosis initiated by novel mutation sites in L gene].

Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine] - 6 Jun 2023

Wang M, Wang D J, Shu Y, Zhu D, Yu C W, He X Y, Zou L

Abstract excerpt

This study aims to analyze the clinical characteristics and genetic variations of two cases with developmental delay and lactic acidosis in a family, and to explore the relationship between genetic variations and clinical features. A retrospective analysis was conducted on the clinical characteristics of two siblings with developmental delay and lactic acidosis who were treated at the Neonatal Department of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37357212
DOI: 10.3760/cma.j.cn112150-20220610-00595

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