A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome
Matsushita, Masaki, Kitoh, Hiroshi, Kaneko, Hiroshi, Mishima, Kenichi, Kadono, Izumi, Ishiguro, Naoki, Nishimura, GenLanguage:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.36134
Date:
August, 2013
File:
PDF, 1.45 MB
english, 2013