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CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.
Bonet-Fernández JM, Aroca-Aguilar JD, Corton M, Ramírez AI, Alexandre-Moreno S, García-Antón MT, Salazar JJ, Ferre-Fernández JJ, Atienzar-Aroca R, Villaverde C, Iancu I, Tamayo A, Méndez-Hernández CD, Morales-Fernández L, Rojas B, Ayuso C, Coca-Prados M, Martinez-de-la-Casa JM, García-Feijoo J, Escribano J. Bonet-Fernández JM, et al. Among authors: tamayo a. Hum Genet. 2020 Oct;139(10):1209-1231. doi: 10.1007/s00439-020-02164-0. Epub 2020 Apr 9. Hum Genet. 2020. PMID: 32274568
Transient PAX8 Expression in Islets During Pregnancy Correlates With β-Cell Survival, Revealing a Novel Candidate Gene in Gestational Diabetes Mellitus.
Martin-Montalvo A, López-Noriega L, Jiménez-Moreno C, Herranz A, Lorenzo PI, Cobo-Vuilleumier N, Tamayo A, González-Guerrero C, Hofsteede JSWR, Lebreton F, Bosco D, García Toscano M, Herranz L, Anselmo J, Moreno JC, Gauthier BR. Martin-Montalvo A, et al. Among authors: tamayo a. Diabetes. 2019 Jan;68(1):109-118. doi: 10.2337/db18-0285. Epub 2018 Oct 23. Diabetes. 2019. PMID: 30352879 Free article.
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