Nasopalpebral Lipoma-Coloboma Syndrome
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_619-1
Reference8 articles.
1. Akarsu AN, Sayli BS (1991) Nasopalpebral lipoma-coloboma syndrome. Clin Genet 40:342–344. https://www.ncbi.nlm.nih.gov/pubmed/1756608
2. Babu NS, Raviprakash D, Kumar R (2011) Nasopalpebral lipoma coloboma syndrome. Indian J Ophthalmol 59:379–380. https://www.ncbi.nlm.nih.gov/pubmed/21836344
3. Bock-Kunz AL, Lyon DB, Singhai VK, Grin TR (2000) Nasopalpebral lipoma-coloboma syndrome. Arch Ophthalmol 118:1699–1701. https://www.ncbi.nlm.nih.gov/pubmed/11115270
4. Chacon-Camacho OF, Lopez-Martinez MS, Vázquez J, Nava-Castañeda A, Martin-Biasotti F, Piña-Aguilar RE, Iñiquez-Soto M, Acosta-García J, Zenteno JC (2013) Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case. Am J Med Genet A 161A:1470–1474. https://www.ncbi.nlm.nih.gov/pubmed/23636874
5. Chacón-Camacho OF, Sobreira N, You J, Piña-Aguilar RE, Villegas-Ruiz V, Zenteno JC (2016) Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome. Am J Med Genet A 170:1934–1937. https://www.ncbi.nlm.nih.gov/pubmed/27139419
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