A novel <i>SOX9</i> H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome
Masaki Matsushita(Nagoya University), Gen Nishimura(Musashino University), Hiroshi Kitoh(Nagoya University), Kenichi Mishima(Fukuoka University), Izumi Kadono(Nagoya University), Naoki Ishiguro(Aichi Developmental Disability Center), Hiroshi Kaneko(Nagoya University)
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