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

• Główni autorzy: Panagiotis Christopoulos (Autor), Anna Eleftheriades (Autor), George Paltoglou (Autor), Eleni Paschalidou (Autor), Emmanouil Kalampokas (Autor), Lina Florentin (Autor), Chrysanthi Billi (Autor), Makarios Eleftheriades (Autor)
• Format: Książka
• Wydane: MDPI AG, 2022-08-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

We present two cases of family members (first cousins) with short extremities caused by a novel variant of <i>COL2A1</i> 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 b...