Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients

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作者： Colombi M. ^[1] ; Dordoni C. ^[2] ; Venturini M. ^[3] ; Ciaccio C. ^[4] ; Morlino S. ; Chiarelli N. ; Zanca A. ; Calzavara‐Pinton P. ; Zoppi N. ; Castori M. ; Ritelli M.

作者单位： Division of Dermatology, Department of Clinical and Experimental SciencesSpedali Civili University ^[1] Division/Laboratory of Medical GeneticsDepartment of Molecular Medicine, Sapienza University, San ^[2] Division of Biology and Genetics, Department of Molecular and Translational MedicineSchool of ^[3] UOC Genetica Medica, IRCCS Casa “Sollievo della Sofferenza”San Giovanni Rotondo (Foggia)Italy ^[4]

关键词 atrophic scars classical Ehlers‐Danlos syndrome COL5A1 COL5A2 diagnostic criteria epicanthus facial dysmorphism skin hyperextensibility

发布时间 2019-07-27

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