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Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.
J Med Genet. 2017 Mar;54(3):157-165. doi: 10.1136/jmedgenet-2016-104143. Epub 2016 Oct 13.
J Med Genet. 2017.
PMID: 27738187
Free article.
A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome.
Sureka D, Stheneur C, Odent S, Arno G, Murphy D, Bernstein JA.
Sureka D, et al.
J Pediatr Genet. 2014 Sep;3(3):157-62. doi: 10.3233/PGE-14095.
J Pediatr Genet. 2014.
PMID: 27625872
Free PMC article.
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Fibroblast growth factor receptor 2 and its role in caudal appendage and craniosynostosis.
Sureka D, Hudgins L.
Sureka D, et al.
J Craniofac Surg. 2010 Sep;21(5):1346-9. doi: 10.1097/SCS.0b013e3181ef2bab.
J Craniofac Surg. 2010.
PMID: 20856019
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