Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.

IF 3.5 2区医学 Q2 GENETICS & HEREDITY

Journal of Medical Genetics Pub Date : 2024-09-24 DOI:10.1136/jmg-2024-110310

Tero T Kivelä, Walter Lisch, Jayne E Weiss

引用次数: 0

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杂合子COL17A1变体是导致成骨不全症的一个常见原因。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Medical Genetics 医学-遗传学

CiteScore

7.60

自引率

2.50%

发文量

审稿时长

4-8 weeks

期刊介绍： Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.