Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report

Tadashi Nagata, Masaki Matsushita, Kenichi Mishima, Yasunari Kamiya, Kohji Kato, Miho Toyama, Tomoo Ogi, Naoki Ishiguro, Hiroshi Kitoh

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Medicine & Life Sciences