Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.

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作者： Marlies,Colman ^[1] ; Robin,Vroman ^[1] ; Tibbe,Dhooge ^[1] ; Zoë,Malfait ^[1] ; Sofie,Symoens ^[1] ; Biruté,Burnyté ^[2] ; Sheela,Nampoothiri ^[3] ; Ariana,Kariminejad ^[4] ; Fransiska,Malfait ^[1] ; Delfien,Syx ^[1]

作者单位： Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University, Ghent, Belgium. ^[1] Center for Medical Genetics, Vilnius University Hospital Santariskiu Klinikos, Vilnius, Lithuania. ^[2] Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Kerala, India. ^[3] Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran. ^[4]

关键词 Ehlers-Danlos syndrome FKBP22 collagen connective tissue extracellular matrix kyphoscoliotic EDS

主题词人类(Humans);Ehlers-Danlos综合征(Ehlers-Danlos Syndrome);肽基脯氨酰异构酶(Peptidylprolyl Isomerase);纯合子(Homozygote);突变, 误义(Mutation, Missense);脊柱侧凸(Scoliosis)

DOI 10.1002/humu.24456

PMID 36054293

发布时间 2023-01-23

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准确一般字义偏差语意偏离译文作用小提交