179 A novel misense mutation of col2a1 gene as a cause of short extremeties in two first cousins
Autor: | P. Christopoulos, G. Paltoglou, E. Paschalidou, E. Tsarna, M. Liakopoulou, O. Triantafyllidou, M. Eleftheriades |
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Rok vydání: | 2022 |
Předmět: | |
Zdroj: | European Journal of Obstetrics & Gynecology and Reproductive Biology. 270:e13 |
ISSN: | 0301-2115 |
DOI: | 10.1016/j.ejogrb.2021.11.060 |
Databáze: | OpenAIRE |
Externí odkaz: |