Oculoectodermal Syndrome (OES)
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_624-1
Reference11 articles.
1. Ardinger HH, Horii KA, Begleiter ML (2007) Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis. Am J Med Genet A 143A:2959–2962
2. Aslan D, Akata RF, Schröder J, Happle R, Moog U, Bartsch O (2014) Oculoectodermal syndrome: report of a new case with a broad clinical spectrum. Am J Med Genet A 164A(11):2947–2951
3. Boppudi S, Bogershausen N, Hove HB, Percin EF, Aslan D, Dvorsky R, Kayhan G, Li Y, Cursiefen C, Tantcheva-Poor I, Toft PB, Bartsch O, Lissewski C, Wieland I, Jakubiczka S, Wollnik B, Ahmadian MR, Heindl LM, Zenker M (2016) Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. Clin Genet. 90:334–342
4. Chacon-Camacho OF, Lopez-Moreno D, Morales-Sanchez MA, Hofmann E, Pacheco-Quito M, Wieland I, Cortes-Gonzalez V, Villanueva-Mendoza C, Zenker M, Zenteno JC (2019) Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies. Mol Genet Genomic Med 7(5):625
5. Gardner J, Viljoen D (1994) Aplasia cutis congenita with epibulbar dermoids: further evidence for syndromic identity of the ocular ectodermal syndrome. Am J Med Genet A 53A:317–320
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