Familial Aggregation of a Novel Missense Variant of COL2A1 Gene Associated with Short Extremities: Case Report and Review of the Literature

We present two cases of family members (first cousins) with short extremities caused by a novel variant of COL2A1 gene (NM_001844.5). Case 1 description: A 29-year-old woman presented in her first pregnancy for a second trimester anomaly scan at 23 weeks of gestation. Fetal long bones were measured...

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Detalles Bibliográficos
Autores principales: Christopoulos, Panagiotis, Eleftheriades, Anna, Paltoglou, George, Paschalidou, Eleni, Kalampokas, Emmanouil, Florentin, Lina, Billi, Chrysanthi, Eleftheriades, Makarios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9406900/
https://www.ncbi.nlm.nih.gov/pubmed/36010119
http://dx.doi.org/10.3390/children9081229

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