一种新的突变(c.122T>A) PEX11B基因在女性青少年先天性白内障和畸形足

Journal of pediatrics, perinatology and child health Pub Date : 2023-01-01 DOI:10.26502/jppch.74050152

V. Tsinopoulou, L. Fidani, Styliani Giza, E. Sakellari, Angeliki Beslika, Stergianna Ntouma, S. Gerou, A. Galli-Tsinopoulou

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摘要

隶属单位:1塞萨洛尼基亚里士多德大学健康科学学院医学院第二儿科内分泌与代谢科，希腊塞萨洛尼基AHEPA大学医院，希腊塞萨洛尼基2塞萨洛尼基亚里士多德大学健康科学学院医学院遗传学实验室3塞萨洛尼基生物病理学诊断研究实验室，希腊塞萨洛尼基

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A Novel Mutation (c.122T>A) of PEX11B Gene in a Female Adolescent with Congenital Cataract and Clubfoot

Affiliation: 1Unit of Paediatric Endocrinology and Metabolism, 2nd Department of Paediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, AHEPA University Hospital, Thessaloniki, Greece 2Laboratory of Genetics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Greece 3Analysis Iatriki S.A., Biopathological Diagnostic Research Laboratories, Thessaloniki, Greece

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Journal of pediatrics, perinatology and child health

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