Hypopituitarism in Patients with Blepharophimosis and <b><i>FOXL2</i></b> Mutations
Abstract
<b><i>Background:</i></b> <i>FOXL2</i> is the gene involved in blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). There have been few single case reports of growth hormone deficiency (GHD) with this syndrome, and <i>Foxl2</i> is known to be involved in pituitary development in mice. Our aim was to analyze the prevalence of <i>FOXL2</i> gene alteration in a series of...
Paper Details
Title
Hypopituitarism in Patients with Blepharophimosis and <b><i>FOXL2</i></b> Mutations
Published Date
Jan 1, 2020
Volume
93
Issue
1
Pages
30 - 39
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