NAGIOS: RODERIC FUNCIONANDO

Pfeiffer syndrome: clinical and genetic findings in five Brazilian families

Repositori DSpace/Manakin

IMPORTANT: Aquest repositori està en una versió antiga des del 3/12/2023. La nova instal.lació está en https://roderic.uv.es/

Pfeiffer syndrome: clinical and genetic findings in five Brazilian families

Mostra el registre parcial de l'element

dc.contributor.author Martelli Júnior, Hercílio es
dc.contributor.author Aquino, Sibele Nascimento de es
dc.contributor.author Machado, Renato Assis es
dc.contributor.author Leão, Letícia Lima es
dc.contributor.author Della Coletta, Ricardo es
dc.contributor.author Burle Aguiar, Marcos José es
dc.date.accessioned 2015-05-08T10:40:50Z
dc.date.available 2015-05-08T10:40:50Z
dc.date.issued 2015 es
dc.identifier.citation Martelli Júnior, Hercílio ; Aquino, Sibele Nascimento de ; Machado, Renato Assis ; Leão, Letícia Lima ; Della Coletta, Ricardo ; Burle Aguiar, Marcos José. Pfeiffer syndrome: clinical and genetic findings in five Brazilian families. En: Medicina oral, patología oral y cirugía bucal. Ed inglesa, 2015, Vol. 20, No. 1: 11- es
dc.identifier.uri http://hdl.handle.net/10550/43607
dc.description.abstract Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits and broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278Phe, Cys342Arg, and Val359Leu in three of these families. Two mutations were de novo, with one familial. We identified pathogenic mutations in four PS cases in five Brazilian families by PCR sequencing of FGFR1 exon 5 and FGFR2 exons 5, 8, 10, 11, 15, and 16. The clinical and genetic aspects of these families confirm that this syndrome can be clinically variable, with different mutations in the FGFR2 responsible for PS. en_US
dc.subject Odontología es
dc.subject Ciencias de la salud es
dc.title Pfeiffer syndrome: clinical and genetic findings in five Brazilian families es
dc.type journal article es_ES
dc.subject.unesco UNESCO::CIENCIAS MÉDICAS es
dc.type.hasVersion VoR es_ES
dc.identifier.url http://www.medicinaoral.com/pubmed/medoralv20_i1_p11.pdf es

Visualització       (0bytes)

Aquest element apareix en la col·lecció o col·leccions següent(s)

Mostra el registre parcial de l'element

Cerca a RODERIC

Cerca avançada

Visualitza

Estadístiques