| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 2773802 | Endocrinología y Nutrición | 2011 | 6 Pages |
Abstract
According to current clinical guidelines, definitive diagnosis of FHH requires genetic confirmation, which allowed in our case for detection of two families with FHH and atypical clinical presentations. We think that rational use of genetic tests may avoid unnecessary surgery and excess monitoring costs.
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Authors
Ignacio Fernández López, Ignacio Fernández Peña, MarÃa Victoria Cózar León, MarÃa Mar Viloria Peñas, Guillermo MartÃnez De Pinillos Gordillo, Mariana Tomé Fernández-Ladreda, Santiago Duran GarcÃa,