Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations.
Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations.
复制标题
DOI：
10.1002/ccr3.1818
复制
发表时间：
2018-11
影响因子：
0.7
通讯作者：
Champaigne NL
中科院分区：
文献类型：
--
作者：
Warren HE;Louie RJ;Friez MJ;Frías JL;Leroy JG;Spranger JW;Skinner SA;Champaigne NL
提出了两个常染色体显性omodysplasia和FZD 2基因突变的患者。最近报道了所鉴定的突变，表明可能存在复发性突变。这些患者的表型与以前报道的重叠，尽管在我们的患者中看到的智力残疾并不典型。
Presented are two patients with autosomal dominant omodysplasia and mutations in the FZD2 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.