Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation
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 neurof...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
2014
|
| Online Access: | http://www.scopus.com/inward/record.url?eid=2-s2.0-84862704574&partnerID=40&md5=2d299baaa5768a2d53a1ea5853aad252 http://cmuir.cmu.ac.th/handle/6653943832/1141 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Institution: | Chiang Mai University |
| Language: | English |
| id |
th-cmuir.6653943832-1141 |
|---|---|
| record_format |
dspace |
| spelling |
th-cmuir.6653943832-11412014-08-29T09:17:48Z Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation Kantaputra P.N. van den Ouweland A. Sangruchi T. Limwongse C. 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. 2014-08-29T09:17:48Z 2014-08-29T09:17:48Z 2012 Article 15524825 10.1002/ajmg.a.35422 22678692 AJMGD http://www.scopus.com/inward/record.url?eid=2-s2.0-84862704574&partnerID=40&md5=2d299baaa5768a2d53a1ea5853aad252 http://cmuir.cmu.ac.th/handle/6653943832/1141 English |
| institution |
Chiang Mai University |
| building |
Chiang Mai University Library |
| country |
Thailand |
| collection |
CMU Intellectual Repository |
| language |
English |
| description |
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. |
| format |
Article |
| author |
Kantaputra P.N. van den Ouweland A. Sangruchi T. Limwongse C. |
| spellingShingle |
Kantaputra P.N. van den Ouweland A. Sangruchi T. Limwongse C. Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation |
| author_facet |
Kantaputra P.N. van den Ouweland A. Sangruchi T. Limwongse C. |
| author_sort |
Kantaputra P.N. |
| title |
Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation |
| title_short |
Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation |
| title_full |
Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation |
| title_fullStr |
Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation |
| title_full_unstemmed |
Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation |
| title_sort |
severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel nf1 mutation |
| publishDate |
2014 |
| url |
http://www.scopus.com/inward/record.url?eid=2-s2.0-84862704574&partnerID=40&md5=2d299baaa5768a2d53a1ea5853aad252 http://cmuir.cmu.ac.th/handle/6653943832/1141 |
| _version_ |
1681419615191695360 |