交界性大疱性表皮松解症合并先天性幽门闭锁的非致死性病例：具有新型整合素β4 基因突变的患者的复合杂合性。
A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation.
机构信息
Harvard Medical School, Boston, MA; Department of Dermatology, Massachusetts General Hospital, Boston, MA.
Harvard Medical School, Boston, MA; Department of Surgery, Massachusetts General Hospital, Boston, MA.
出版信息
J Pediatr. 2018 Feb;193:261-264.e1. doi: 10.1016/j.jpeds.2017.09.023. Epub 2017 Dec 1.
PMID:29198538
Abstract
We report a case of nonfatal junctional epidermolysis bullosa and pyloric atresia in a newborn. We identified a substitution (c.914C>T) for the integrin β4 gene that has been associated with favorable outcome. A novel mutation (c.2011T>G) of unknown significance was also found in this patient who is now thriving.
摘要
我们报告一例新生儿非致命性交界性大疱性表皮松解症合并幽门闭锁。我们鉴定出整合素β4 基因突变（c.914C>T），该突变与良好预后相关。该患者还发现了一个新的未知意义突变（c.2011T>G），目前患者生长发育良好。
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