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Year | Number of Results |
---|---|
2014 | 1 |
2015 | 2 |
2016 | 1 |
2024 | 0 |
PubMed (GeneRIF) for id: 10586
4 results
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The Male Abnormal Gene Family 21 (Mab21) Members Regulate Eye Development.
Curr Mol Med. 2016;16(7):660-667. doi: 10.2174/1566524016666160824150729.
Curr Mol Med. 2016.
PMID: 27558071
Review.
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.
Horn D, Prescott T, Houge G, Brække K, Rosendahl K, Nishimura G, FitzPatrick DR, Spranger J.
Horn D, et al.
Eur J Med Genet. 2015 Aug;58(8):387-91. doi: 10.1016/j.ejmg.2015.06.003. Epub 2015 Jun 23.
Eur J Med Genet. 2015.
PMID: 26116559
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Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.
Deml B, Kariminejad A, Borujerdi RH, Muheisen S, Reis LM, Semina EV.
Deml B, et al.
PLoS Genet. 2015 Feb 26;11(2):e1005002. doi: 10.1371/journal.pgen.1005002. eCollection 2015.
PLoS Genet. 2015.
PMID: 25719200
Free PMC article.
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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A; UK10K; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR.
Rainger J, et al.
Am J Hum Genet. 2014 Jun 5;94(6):915-23. doi: 10.1016/j.ajhg.2014.05.005.
Am J Hum Genet. 2014.
PMID: 24906020
Free PMC article.
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