Identification of an Autosomal Dominant Mutation in the...

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Molecular Syndromology 2018 / 8

Identification of an Autosomal Dominant Mutation in the COL2A1 Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family

Dikaiakou, Eirini, Vlachopapadopoulou, Elpis A., Manolakos, Emanouil, Samelis, Panagiotis, Margariti, Rodanthi, Zampakides, Christos, Michalacos, Stefanos
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Language:
english
Journal:
Molecular Syndromology
DOI:
10.1159/000492190
Date:
August, 2018
File:
PDF, 932 KB
english, 2018
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