A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency

作者：Lonero Antonella; Delvecchio Maurizio; Primignani Paola; Caputo Roberto; Bargiacchi Sara; Penco Silvana; Mauri Lucia; Andreucci Elena; Faienza Maria Felicia; Cavallo Luciano

来源：Journal of Pediatric Endocrinology & Metabolism, 2016, 29(5): 603-605.

DOI：10.1515/jpem-2015-0425

<jats:title>Abstract</jats:title><jats:p>mutations are reported in patients with eye maldevelopment and in some cases with brain or pituitary abnormalities. We describe a child carrying a novel</jats:p>

• 出版日期2016-5