UNASSIGNED: We present the case of a Chinese woman diagnosed with Czech dysplasia (proband) who carried a variant in the COL2A1 gene. Whole-exome sequencing (WES) identified the COL2A1 missense mutation (R275C, c.823C > T) in close relatives of the proband who also exhibited the same disorder.
UNASSIGNED: This study is a thorough clinical and physiological description of Czech dysplasia in a Chinese patient.
■我们介绍了一名被诊断患有捷克发育不良(先证者)的中国妇女的病例,该妇女携带COL2A1基因的变异。全外显子组测序(WES)鉴定了COL2A1错义突变(R275C,c.823C>T)在先证者的近亲中也表现出相同的疾病。
■这项研究是对一名中国患者的捷克发育不良的全面临床和生理描述。