Literature DB >> 26860946

14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability.

Gabriela E Jones1, Lisa Robertson2, Paul Warman3, Emily V Craft1, Lara Cresswell3, Pradeep C Vasudevan1.   

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Year:  2016        PMID： 26860946     DOI： 10.3109/13816810.2015.1059463

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


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  2 in total

1.  Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS).

Authors:  Malú Zamariolli; Mileny Colovati; Mariana Moysés-Oliveira; Natália Nunes; Leonardo Caires Dos Santos; Ana B Alvarez Perez; Silvia Bragagnolo; Maria Isabel Melaragno
Journal:  Mol Genet Genomic Med       Date:  2019-08-30       Impact factor: 2.183

Review 2.  Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome.

Authors:  Laura Bosch I Ara; Harshini Katugampola; Mehul T Dattani
Journal:  Front Pediatr       Date:  2021-02-02       Impact factor: 3.418
  2 in total

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