Nalaganje...

Case Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseous Heteroplasia

Progressive osseous heteroplasia (POH; OMIM 166350) is a rare autosomal-dominant genetic disorder in which extra-skeletal bone forms within skin and muscle tissue. POH is one of the clinical manifestations of an inactivating mutation in the GNAS gene. GNAS gene alterations are difficult matter to ad...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Front Pediatr
Main Authors: Justicia-Grande, Antonio José, Gómez-Ríal, Jose, Rivero-Calle, Irene, Pischedda, Sara, Curras-Tuala, María José, Gómez-Carballa, Alberto, Cebey-López, Miriam, Pardo-Seco, Jacobo, Méndez-Gallart, Roberto, Fernández-Seara, María José, Salas, Antonio, Martinón-Torres, Federico
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2021
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC8260848/
https://ncbi.nlm.nih.gov/pubmed/34249809
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2021.662669
Oznake: Označite
Brez oznak, prvi označite!