| dc.creator | Saeteros Cordero, Xavier Eduardo | |
| dc.creator | Serrano Serrano, Adrián | |
| dc.creator | Peñafiel Ortíz, Betcy | |
| dc.creator | Ochoa, Eddy | |
| dc.creator | Silva Vásquez, Mirian | |
| dc.creator | Salinas Pozo, María Victoria | |
| dc.creator | Sempertegui, Pablo | |
| dc.creator | Palacios Astudillo, Rodrigo Xavier | |
| dc.date.accessioned | 2017-06-05T21:16:56Z | |
| dc.date.accessioned | 2022-10-20T20:37:26Z | |
| dc.date.available | 2017-06-05T21:16:56Z | |
| dc.date.available | 2022-10-20T20:37:26Z | |
| dc.date.created | 2017-06-05T21:16:56Z | |
| dc.date.issued | 2017-04 | |
| dc.identifier | 1390-4450 | |
| dc.identifier | http://dspace.ucuenca.edu.ec/handle/123456789/27508 | |
| dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/4597769 | |
| dc.description.abstract | Apert syndrome also called acrocephalosyndactyly
Type I is characterized by craniosynostosis , symmetric
syndactyly in all four limbs , mental retardation , skin and
maxillofacial disorders ; It is caused by a mutation in the
gene receptor 2 fibrobroblástico growth factor expressing
FGFR2 autosomal dominant (AD ) .
Case report: as is the acrocephaly and syndactyly in
the hands and feet of newborn male case, Capurro of
38 weeks approximately, with classical phenotypic characteristics
of this syndrome is presented as is the acrocephaly
and syndactyly in hands and feet | |
| dc.language | spa | |
| dc.publisher | Universidad de Cuenca. Facultad de Ciencias Médicas | |
| dc.relation | 610.5;201722 | |
| dc.subject | Acrocefalosindactilia Acs | |
| dc.subject | Fgfr2 | |
| dc.subject | Ad. | |
| dc.title | Síndrome de Apert, reporte de caso clínico | |
| dc.type | Article | |
