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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Ngā taipitopito rārangi puna kōrero

Ngā kaituhi matua:	Valentina Mancioppi, Flavia Prodam, Simona Mellone, Roberta Ricotti, Enza Giglione, Nicolino Grasso, Denise Vurchio, Antonella Petri, Ivana Rabbone, Mara Giordano, Simonetta Bellone
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	Frontiers Media S.A. 2021-08-01
Rangatū:	Frontiers in Genetics
Ngā marau:	short stature ACAN mutation aggrecans osteoarthritis dissecans
Urunga tuihono:	https://www.frontiersin.org/articles/10.3389/fgene.2021.708864/full
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!