在另一名患有罗夫曼综合征的患者中扩展非编码基因突变的关键区域。
Extending the critical regions for mutations in the non-coding gene in another patient with Roifman Syndrome.
作者信息
Hallermayr Ariane, Graf Janine, Koehler Udo, Laner Andreas, Schönfeld Brigitte, Benet-Pagès Anna, Holinski-Feder Elke
机构信息
MGZ - Medical Genetics Center Munich Germany.
出版信息
Clin Case Rep. 2018 Oct 11;6(11):2224-2228. doi: 10.1002/ccr3.1830. eCollection 2018 Nov.
Abstract
Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.116A>C) affecting a highly conserved nucleotide in the noncoding gene could be identified in a patient with overlapping features of Roifman Syndrome. These data extend the spectrum of pathogenic variants in .
摘要
在一名具有罗夫曼综合征重叠特征的患者中，可鉴定出一个先前描述的致病变异与另一个影响非编码基因中高度保守核苷酸的新型核苷酸替换（NR_023343.1:n.116A>C）的复合杂合性。这些数据扩展了……中致病变异的谱。
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