Editorial: Novel Insights Into the Genetics of Growth Disorders.
作者信息
Giordano Mara, Stuppia Liborio
机构信息
Laboratory of Genetics, SCDU Clinical Biochemistry, University Hospital "Maggiore della Carità", Novara and Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
Department of Psychological, Health and Territorial Sciences and Center for Advanced Sciences and Technology (CAST), G. d'Annunzio University, Chieti-Pescara, Italy.
出版信息
Front Genet. 2022 Jun 8;13:920469. doi: 10.3389/fgene.2022.920469. eCollection 2022.
Abstract
摘要
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Editorial: Novel Insights Into the Genetics of Growth Disorders.
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Novel Loss-of-Function Mutations in Cause Acromesomelic Dysplasia, Maroteaux Type.
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Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis.
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