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Items: 5

1.
Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men
Cécile Brachet, Elena A Kozhemyakina, Emese Boros, Claudine Heinrichs, Irina Balikova, Julie Soblet, Guillaume Smits, Catheline Vilain, Peter H Mathers
J Clin Endocrinol Metab. 2019 Jul; 104(7): 2925–2930. Published online 2019 Feb 27. doi: 10.1210/jc.2018-02316
PMCID:
PMC6543774
AbstractArticle
2.
Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations
Xiu-Feng Huang, Zhi-Qin Huang, Dan Lin, Ma-Li Dai, Qing-Feng Wang, Zhen-Ji Chen, Zi-Bing Jin, Yuqin Wang
Sci Rep. 2017; 7: 9064. Published online 2017 Aug 22. doi: 10.1038/s41598-017-09276-0
PMCID:
PMC5567291
AbstractArticlePDF–1.8M
3.
RAX and anophthalmia in humans: Evidence of brain anomalies
Hana Abouzeid, Mohamed A. Youssef, Nader Bayoumi, Nihal ElShakankiri, Iman Marzouk, Philippe Hauser, Daniel F. Schorderet
Mol Vis. 2012; 18: 1449–1456. Published online 2012 Jun 2.
PMCID:
PMC3380941
AbstractArticlePDF–789K
4.
Confirmation of RAX gene involvement in human anophthalmia
L. Lequeux, Marlène Rio, Armelle Vigouroux, Matthias Titeux, Heather Etchevers, François Malecaze, Nicolas Chassaing, Patrick Calvas
Clin Genet. Author manuscript; available in PMC 2009 Oct 19.
Published in final edited form as: Clin Genet. 2008 Oct; 74(4): 392–395. Published online 2008 Sep 9. doi: 10.1111/j.1399-0004.2008.01078.x
PMCID:
PMC2763090
AbstractArticle
5.
Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression
Hiroki Danno, Tatsuo Michiue, Keisuke Hitachi, Akira Yukita, Shoichi Ishiura, Makoto Asashima
Proc Natl Acad Sci U S A. 2008 Apr 8; 105(14): 5408–5413. Published online 2008 Apr 2. doi: 10.1073/pnas.0710954105
PMCID:
PMC2291098
AbstractArticlePDF–465K

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