| Identifier |
CH38_1823-1898 |
| Title |
Phacomatoses |
| Alternative Title |
Section 8: Chapter 38 |
| Creator |
John Kerrison, MD, Retina Consultants of Charleston |
| Affiliation |
Wilmer Eye Institute - Johns Hopkins Hospital |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Subject |
Neurocutaneous Syndromes; Phacomatoses; Neurofibromatosis; Tuberous Sclerosis; Von Hippel-Lindau Disease; Sturge-Weber Syndrome; Ataxia; Wyburn-Mason Syndrome; Klippel-Trenaunay-Weber Syndrome |
| Description |
"Syndromes characterized by hamartomas of the skin, eye, central nervous system (CNS), and other viscera are collectivelycalled phacomatoses (1). These disorders produce significant visual and neurologic disturbances. Although most of these syndromes arise from mutations in single genes inherited in a Mendelian pattern, some have no apparent hereditarybasis. We discuss each of the syndromes considered in the categoryof neuro-ocular-cutaneous disorders." |
| Abstract |
"Syndromes characterized by hamartomas of the skin, eye, central nervous system (CNS), and other viscera are collectivelycalled phacomatoses (1). These disorders produce significant visual and neurologic disturbances. Although most of these syndromes arise from mutations in single genes inherited in a Mendelian pattern, some have no apparent hereditarybasis. We discuss each of the syndromes considered in the categoryof neuro-ocular-cutaneous disorders." |
| Format |
application/pdf |
| Extent |
4.5 MB |
| Language |
eng |
| Publication Type |
Book chapter |
| Setname |
ehsl_novel_wht |
| ID |
190077 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6rj4hsw/190077 |
