Varón de 3 años de edad con rasgos dismórficos y craneosinostosis: síndrome de Saethre-Chotzen / A three year old boy with dysmorphic and craniosynostosis traits: Saethre-Chotzen syndrome
Acta pediatr. esp
; 67(8): 393-395, sept. 2009. ilus
Article
in Spanish
| IBECS
| ID: ibc-75919
Responsible library:
ES1.1
Localization: BNCS
RESUMEN
Se comunica el caso de un niño con el síndrome de Saethre-Chotzen (acrocefalosindactilia de tipo III), una de las craneosinostosis más frecuentes, y se describe la mutación causal en el gen TWIST (AU)
ABSTRACT
It is informed of a child with the Saethre-Chotzen syndrome (acrocephalosyndactylia of type III), one of the most frequent craniosynostosis, and it is described as a causal mutation in the TWIST gene (AU)
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Collection:
National databases
/
Spain
Database:
IBECS
Main subject:
Craniosynostoses
/
Twist-Related Protein 1
Type of study:
Diagnostic study
/
Etiology study
Limits:
Child, preschool
/
Humans
/
Male
Language:
Spanish
Journal:
Acta pediatr. esp
Year:
2009
Document type:
Article
Institution/Affiliation country:
Hospital General de Área «Virgen de la Salud»/España
