| Authors | Despina Contopoulos-Ioannidis, Athanasios Evangeliou, Henk ter Laak, Bert de Vries, Rolph Pfundt, Hans Scheffer, Jan Smeitink, Meropi Tzoufi, Alexandros Makis, Evangelos Marinos, Richard Hess, David Adams, Marjan Huizing, Eva Morava |
| Journal | American journal of medical genetics. Part A
(Am J Med Genet A)
Vol. 146A
Issue 23
Pg. 3100-3
(Dec 01 2008)
ISSN: 1552-4833 [Electronic] United States |
| PMID | 19006216
(Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Intramural)
|
| Topics |
- Adolescent
- Albinism, Oculocutaneous
(complications, diagnosis, pathology)
- Female
- Genetic Predisposition to Disease
- Humans
- Malignant Hyperthermia
(genetics)
- Phenotype
- Platelet Storage Pool Deficiency
(complications, diagnosis, pathology)
- Recurrence
- Rhabdomyolysis
(complications, diagnosis, pathology)
|
