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Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response
Pediatric and Developmental Pathology ( IF 1.3 ) Pub Date : 2022-09-17 , DOI: 10.1177/10935266221079569
Lois J Starr 1 , Mark E Lindsay 2, 3, 4 , Deborah Perry 5 , Gregory Gheewalla 6 , Paul A VanderLaan 7 , Adnan Majid 8 , Charlie Strange 9 , George-Claudiu Costea 10 , Adrian Lungu 10 , Angela E Lin 11
Affiliation  

Background: Myhre syndrome, caused by pathogenic variants in SMAD4, is characterized by compact body habitus with short stature, distinctive craniofacial appearance, stiff skin, cardiovascular abno...

中文翻译:

Myhre 综合征病理特征回顾:SMAD4 功能获得性致病变异导致多系统纤维增生反应

背景:Myhre 综合征是由 SMAD4 致病性变异引起的,其特征是体型紧凑,身材矮小,颅面部外观独特,皮肤僵硬,心血管异常...
更新日期:2022-09-22
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