{Reference Type}: Case Reports
{Title}: [A case of Wiedemann-Steiner syndrome characterized by amenorrhoea, hypertrichosis, short stature, intellectual disability].
{Author}: He MY;Zeng FF;Wu Y;Miao Q;
{Journal}: Zhonghua Nei Ke Za Zhi
{Volume}: 62
{Issue}: 4
{Year}: Apr 2023 1
暂无{DOI}: 10.3760/cma.j.cn112138-20220709-00503
{Abstract}: Wiedemann-Steiner综合征（WSS）是由KMT2A基因突变导致的，以智力障碍、多毛、身材矮小、面容异常为特征的罕见遗传病。本文报道1例因闭经、多毛至内分泌科就诊患者，最后诊断为WSS，并回顾复习相关文献。该患者携带1个未报道过的KMT2A突变位点，同时存在下丘脑性闭经、垂体微腺瘤和肾上腺腺瘤，拓展了KMT2A突变相关的WSS临床表型。.