{Reference Type}: Case Reports
{Title}: [Analysis of phenotype and pathogenic variant in a case of Heimler syndrome].
{Author}: Zuo B;Wang LL;Mao L;Xu GE;Sun SP;Lu W;
{Journal}: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
{Volume}: 59
{Issue}: 3
{Year}: 2024 Mar 7
暂无{DOI}: 10.3760/cma.j.cn115330-20240117-00033
{Abstract}: 本文报道了1例Heimler综合征患儿，并确定了该家系的分子遗传基础，先证者携带NM_000466.3（PEX1）：c.2966T>C（p.Ile989Thr）和c.2783+2T>C两个变异位点。经Sanger测序验证c.2966T>C位点变异遗传自其母亲，c.2783+2T>C变异位点遗传自其父亲，并结合RNA测序进行变异功能验证，两个变异评级为致病。.