Neurofibromatosis type 1 molecular testing and clinical presentation of two cases
Neurofibromatosis type 1 is caused by mutations in the NF1 gene located on chromosome 17q. Case 1: A 1 year 7-month-old boy had progressive right ptosis which began when he was 19 months of age and numerous café-au-lait spots. Case 2: A 28 years old woman presents: café-au-lait spots, one subcutaneo...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
"Alexandru Ioan Cuza" University of Iași
2010-06-01
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| Series: | Analele Ştiinţifice Ale Universităţii Alexandru Ioan Cuza din Iași,Sectiunea II A : Genetica si Biologie Moleculara |
| Online Access: | http://www.gbm.bio.uaic.ro/index.php/gbm/article/view/758 |