Article
Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.
Hormone research in paediatrics - 1 Jan 2020
Castets Sarah, Roucher-Boulez Florence, Saveanu Alexandru, Mallet-Motak Delphine, Chabre Olivier, Amati-Bonneau Patrizia, Bonneau Dominique, Girardin Celine, Morel Yves, Villanueva Carine, Brue Thierry, Reynaud Rachel, Nicolino Marc
Abstract excerpt
BACKGROUND: FOXL2 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 Foxl2 is known to be involved in pituitary development in mice. Our aim was to analyze the prevalence of FOXL2 gene alteration in a series of patients with congenital hypopituitarism and eyelid anomalies....
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