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...

Descripción completa

Detalles Bibliográficos
Autores principales: Mancioppi, Valentina, Prodam, Flavia, Mellone, Simona, Ricotti, Roberta, Giglione, Enza, Grasso, Nicolino, Vurchio, Denise, Petri, Antonella, Rabbone, Ivana, Giordano, Mara, Bellone, Simonetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8397523/
https://www.ncbi.nlm.nih.gov/pubmed/34456977
http://dx.doi.org/10.3389/fgene.2021.708864

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8397523/
https://www.ncbi.nlm.nih.gov/pubmed/34456977
http://dx.doi.org/10.3389/fgene.2021.708864

Ejemplares similares