Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care
Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care
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DOI：
10.1002/ajmg.a.40377
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发表时间：
2018-11-01
影响因子：
2
通讯作者：
Bartlett, Heather L.
中科院分区：
文献类型：
--
作者：
Legare, Janet M.;Modaff, Peggy;Bartlett, Heather L.
骨发育不良是一种罕见的骨骼发育不良，常合并进展性心脏病。有关长期结果的信息有限。一个最大的幸存患者的临床最新描述与地球生长发育不良1型提供。对心脏疾病和干预措施作了特别说明。对ADAMTSL2的基因检测发现了一个先前报道的错义突变和一个新的无义突变，该突变可被添加到GelePhysic Ducture增殖症的致病突变列表中。
Geleophysic dysplasia is a rare skeletal dysplasia often complicated by progressive cardiac disease. Information about long-term outcomes is limited. A clinical update of the oldest surviving patient described with geleophysic dysplasia type 1 is provided. Special note is made in relation to the cardiac disease and interventions. Genetic testing of ADAMTSL2 revealed a previously reported missense mutation as well as a novel nonsense mutation, which can be added to the list of causative mutations in geleophysic dysplasia.