Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of <i>FOXL2</i> and Review of the Literature.

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作者： Veronica,Bertini ^[1] ; Angelo,Valetto ^[1] ; Fulvia,Baldinotti ^[2] ; Alessia,Azzarà ^[1] ; Francesca,Cambi ^[1] ; Benedetta,Toschi ^[3] ; Alessandro,Giacomina ^[4] ; Gian L,Gatti ^[4] ; Simone,Gana ^[3] ; Maria A,Caligo ^[2] ; Silvano,Bertelloni ^[5]

作者单位： SOD Citogenetica, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy. ^[1] SOD Genetica Molecolare, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy. ^[2] Sezione Genetica Medica, Medicina Interna 1, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy. ^[3] U.O. Chirurgia Plastica, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy. ^[4] Pediatric Division, Department of Obstetrics, Gynecology and Pediatrics, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy. ^[5]

关键词 3q23 deletion Anti-müllerian hormone BPES COPB2 FOXL2 Inhibin B MRPS22 Ovarian function Regulatory elements array CGH

DOI 10.1159/000497092

PMID 31191203

发布时间 2020-10-01

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