两名患有常染色体显性骨发育异常和突变的无血缘关系患者。
Two unrelated patients with autosomal dominant omodysplasia and mutations.
作者信息
Warren Hannah E, Louie Raymond J, Friez Michael J, Frías Jaime L, Leroy Jules G, Spranger Jürgen W, Skinner Steven A, Champaigne Neena L
机构信息
Greenwood Genetic Center Greenwood South Carolina.
Department of Pediatrics University of South Florida Tampa Florida.
出版信息
Clin Case Rep. 2018 Oct 15;6(11):2252-2255. doi: 10.1002/ccr3.1818. eCollection 2018 Nov.
Presented are two patients with autosomal dominant omodysplasia and mutations in the gene. The mutations identified have been recently reported, suggesting the possibility of recurrent mutations. The phenotypes of these patients overlap with what has been previously reported, though intellectual disability as seen in our patient is not typical.
本文报告了两名患有常染色体显性骨发育异常且该基因发生突变的患者。所鉴定出的突变最近已有报道，提示存在复发性突变的可能性。这些患者的表型与先前报道的情况有重叠，不过我们患者中出现的智力障碍并不典型。
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