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

Familial Aggregation of a Novel Missense Variant of <i>COL2A1</i> 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 <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...

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Main Authors: Panagiotis Christopoulos (Author), Anna Eleftheriades (Author), George Paltoglou (Author), Eleni Paschalidou (Author), Emmanouil Kalampokas (Author), Lina Florentin (Author), Chrysanthi Billi (Author), Makarios Eleftheriades (Author)
Format: Book
Published: MDPI AG, 2022-08-01T00:00:00Z.
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3rd Floor Main Library

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