Publication: Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation
Issued Date
2012-07-01
Resource Type
ISSN
15524833
15524825
15524825
Other identifier(s)
2-s2.0-84862704574
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Mahidol University
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SCOPUS
Bibliographic Citation
American Journal of Medical Genetics, Part A. Vol.158 A, No.7 (2012), 1750-1753
Suggested Citation
Piranit Nik Kantaputra, Ans van den Ouweland, Tumtip Sangruchi, Chanin Limwongse Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation. American Journal of Medical Genetics, Part A. Vol.158 A, No.7 (2012), 1750-1753. doi:10.1002/ajmg.a.35422 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/13684
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Title
Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation
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Abstract
A Thai woman, who was affected with neurofibromatosis type 1, was followed up and re-evaluated at ages 45, 61, and 67 years. Her mother and her three brothers were also affected. The proposita was very severely affected. She was born blind with underdeveloped eyeglobes and had large plexiform neurofibromas on her face. Her eyelids were gigantic and tears drained from the orifice between them. Cutaneous neurofibromas were observed all over her body. A novel mutation c.4821delA was identified in NF1 gene, which predicted truncation of neurofibromin (p.Leu1607fs). © 2012 Wiley Periodicals, Inc.
