Article
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
American journal of medical genetics. Part A - 1 Oct 2013
Matsushita Masaki, Kitoh Hiroshi, Kaneko Hiroshi, Mishima Kenichi, Kadono Izumi, Ishiguro Naoki, Nishimura Gen
Abstract excerpt
The phenotypic similarities have been demonstrated between non-lethal campomelic dysplasia (CD) and small patella syndrome (SPS), in which different genetic defects have been identified. We report on a familial case of skeletal dysplasia with overlapping phenotype of mild CD and SPS, including defective ischio-pubic ossification, elongated femoral neck, hypoplastic patellae, and increased space between the first...
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