[태그:] hypochondroplasia

Key summary 1. Two conditions, one gene, two hotspots Achondroplasia has an unusually concentrated molecular basis. More than 99% of patients carry one of two changes at a single position — c.1138G>A or c.1138G>C — and both produce p.Gly380Arg [9]. That concentration is what makes targeted testing so efficient, and what makes it a trap…