TY - JOUR A2 - Cotter, Philip D. AU - Hettiarachchi, D. AU - Pathirana, b.a . p.s. AU - Kumarasiri, P. AU - Dissanayake, V. H. W. PY - 2019 DA - 2019/11/06 TI - Two Novel variant in theATRXX-linked alpha-thalassemia mental retardation (ATR-X) syndrome: X-linked alpha-thalassemia mental retardation (ATR-X) syndrome: X-linked alpha-thalassemia mental retardation (ATR-X) syndrome: X- encoded Gene mutation ATRX．在这里，我们描述了两个不相关的病人的斯里兰卡起源的新错义变异 ATRX吉恩:c.839C > T | p。Cys280Tyr和c.5369C > T | p.Ala1790Val。这两个新变异与不同的表型相关，这些表型在临床上分别类似于X-linked智力迟缓-低张相综合征和Smith-Fineman-Myers综合征。这些病例扩大了ATR-X综合征的临床范围，并为分子诊断提供了新的机会 ATRX男性患者严重的整体发育迟缓和智力障碍的突变。SN - 2090-6544 UR - https://doi.org/10.1155/2019/2687595 DO - 10.1155/2019/2687595 JF - Case Reports in Genetics PB - Hindawi KW - ER -