Congenital glaucoma and CYP1B1: an old story revisited
Author:
Funder
King Abdulaziz City for Science and Technology
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-018-1878-z.pdf
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2. Aldahmesh MA, Khan AO, Meyer BF, Alkuraya FS (2009) Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia. Invest Ophthalmol Vis Sci 50:4142–4145
3. Alkuraya FS (2010) Homozygosity mapping: one more tool in the clinical geneticist’s toolbox. Genet Med 12:236–239
4. Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin H, Patel N, Hashem M, Ibrahim N, Abdulwahab F (2017) Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatry 22:615–624
5. Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, Astle WF, Otterud B, Leppert M, Lupski JR (1998) Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Human Genet 62:325–333
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