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
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