Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report
Author:
Funder
Instituto de Salud Carlos III
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-019-0844-5.pdf
Reference57 articles.
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2. Kelberman D, Dattani MT. Septo-optic dysplasia - novel insights into the aetiology. Horm Res. 2008;69:257–65.
3. Kelberman D, de Castro SC, Huang S, et al. SOX2 plays a critical role in the pituitary, forebrain and eye during human embryonic development. J Clin Endocrinol Metab. 2008;93:1865–73.
4. McCabe MJ, Alatzoglou KS, Dattani MT. Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. Best Pract Res Clin Endocrinol Metab. 2011;25(1):115–24.
5. Agilent SureDesign [Internet]. [cited 2018 Oct 11]. Available from: https://earray.chem.agilent.com/suredesign/
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