Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis
Simsek-Kiper, Pelin O., Taskiran, Ekim Z., Kosukcu, Can, Urel-Demir, Gizem, Akgun-Dogan, Ozlem, Yilmaz, Guney, Utine, Gulen E., Nishimura, Gen, Boduroglu, Koray, Alikasifoglu, MehmetМова:
english
Журнал:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.40427
Date:
July, 2018
Файл:
PDF, 1.41 MB
english, 2018