| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 4141431 | Anales de Pediatría | 2015 | 5 Pages |
Abstract
Dysmorphic features are strongly suggestive of SGS. Its clinical recognition is essential to enable an early diagnosis, a proper follow-up, and to provide the family with genetic counseling. To date, this is the seventeenth SGS patient published with SETBP1 mutation, and the first in Spain, helping to widen clinical and molecular knowledge of the disease.
Keywords
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Authors
V. López-González, M.R. Domingo-Jiménez, L. Burglen, M.J. Ballesta-MartÃnez, S. Whalen, J.A. Piñero-Fernández, E. Guillén-Navarro,