An Orthodenticle Homeobox 2 (OTX2) Mutation in a Patient With Combined Pituitary Hormone Deficiency, Pituitary Malformation, and Retinitis Pigmentosa
Author:
Publisher
Springer Science and Business Media LLC
Subject
Aerospace Engineering
Reference9 articles.
1. A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction;Henderson RH;Mol Vis,2009
2. New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review;Pichiecchio A;BMC Med Genomics,2018
3. OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium;Vincent A;J Med Genet,2014
4. Congenital hypopituitarism: various genes, various phenotypes;Xatzipsalti M;Horm Metab Res,2019
5. OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype;Schilter KF;Clin Genet,2011
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