2016, Número 5
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Rev Invest Clin 2016; 68 (5)
Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro Syndrome
Chacón-Camacho ÓF, Cabral-Macías J, Ayala-Ramírez R, Arteaga-Vázquez J, Svyryd Y, Helmes K, Pérez-Hernández N, Mutchinick OM, Zenteno JC
Idioma: Ingles.
Referencias bibliográficas: 18
Paginas: 269-274
Archivo PDF: 554.81 Kb.
RESUMEN
Sin resumen.
REFERENCIAS (EN ESTE ARTÍCULO)
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Kohlhase J, Schubert L, Liebers M, et al. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Hol-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. J Med Genet. 2003;40:473-8.
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McDermott DA, Fong JC, Basson CT. Holt-Oram Syndrome. 2004 Jul 20 (Updated 2013 Apr 4). In: Pagon RA, Adam MP, Amemiya A, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available at: http://www.ncbi. nlm.nih.gov/books/NBK1111/. [Accessed June 2016].
Borozdin W, Boehm D, Leiplodt M, et al. SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenetic mechanism. J Med Genet. 2004;41:e113.
Borozdin W, Graham JM, Böhm D, et al. Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay. Hum Mut. 2007;28:830.
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