| Identifier |
wh_ch38_p1844_3 |
| Title |
Walsh & Hoyt: Clinical and Molecular Genetics |
| Creator |
John Kerrison, MD |
| Affiliation |
Retina Consultants of Charleston |
| Subject |
Neurocutaneous Syndromes; Phacomatoses; Tuberous Sclerosis; Clinical Genetics; Molecular Genetics |
| Description |
Tuberous sclerosis is transmitted as an autosomal-dominant disorder with markedly variable expression, a penetrance approaching 95% in families, and a high mutation rate. Up to two-thirds of the cases are new mutations. The mutation rate was calculated as 2.5 per 100,000 gametes. A parental age effect for new mutations has not been observed. Mosaicism maybe a feature in a small percent of patients. |
| Date |
2005 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
Walsh and Hoyt's Clinical Neuro-Ophthalmology, 6th Edition |
| Relation is Part of |
Walsh and Hoyt's Clinical Neuro-Ophthalmology Walsh and Hoyt's Clinical Neuro-Ophthalmology |
| Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher |
Wolters Kluwer Health, Philadelphia |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E SLC, UT 84112-5890 |
| Rights Management |
Copyright 2005. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s64x8h9b |
| Setname |
ehsl_novel_whts |
| ID |
186563 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s64x8h9b |
