Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature

Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature

Short stature is a frequent disorder in the pediatric population and can be caused by multiple factors. In the last few years, the introduction of Next Generation Sequencing (NGS) in the molecular diagnostic workflow led to the discovery of mutations in novel genes causing short stature including he...

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Bibliographic Details
Main Authors: Valentina Mancioppi, Flavia Prodam, Simona Mellone, Roberta Ricotti, Enza Giglione, Nicolino Grasso, Denise Vurchio, Antonella Petri, Ivana Rabbone, Mara Giordano, Simonetta Bellone
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Genetics
Subjects:
short stature
ACAN
mutation
aggrecans
osteoarthritis dissecans
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.708864/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.708864/full

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