Results 101 to 110 of about 1,362 (197)

Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle. [PDF]

Genes (Basel), 2020
Sieck RL, Fuller AM, Bedwell PS, Ward JA, Sanders SK, Xiang SH, Peng S, Petersen JL, Steffen DJ.   +8 more
europepmc   +1 more source

Síndrome Treacher-Collins. Presentación de caso. [PDF]

, 2015
El Síndrome Treacher-Collins es un trastorno craneofacial congénito que se produce por la mutación del gen TCOF1, localizado en el cromosoma 5q31-33.
Santana Hernández, Elayne Esther, Tamayo Chang, Víctor Jesús   +1 more
core  

Microssomia otomandibular: relato de caso Otomandibular microsomia: case report

Brazilian Journal of Otorhinolaryngology, 2011
Jozinete Vieira Pereira, Luiz Guedes de Carvalho Neto, Rudyard dos Santos Oliveira, Lúcia de Fátima de Oliveira Costa, Rosemberg de Oliveira Costa   +4 more
doaj   +1 more source

Mandibulofacial dysostosis with microcephaly: a syndrome to remember. [PDF]

BMJ Case Rep, 2019
Silva JB, Soares D, Leão M, Santos H.
europepmc   +1 more source

A novel <i>EFTUD2</i> splicing variant causing mandibulofacial dysostosis with microcephaly: a case report. [PDF]

Transl Pediatr
Xu Y, Zhang X, Lu W, Xiao Y, Ma X, Chen L, Dong Z.   +6 more
europepmc   +1 more source

Síndrome de Franceschetti-Klein: Achados de imagem [PDF]

A síndrome de Franceschetti-Klein (SFK) teve somente em 1900 as suas principais características descritas por E. Treacher-Collins. E uma doença autossômica dominante rara que compromete o desenvolvimento craniofacial e apresenta uma incidência de cerca ...
Brunel Alves, Anita, Burato Wessler, Leticia, de Aguiar da Costa, Maiara, Lin, Jaime, Ludvig Gonçalves, Cinara   +4 more
core   +1 more source

Prenatal Ultrasound and Genetic Diagnosis of EFTUD2 Haploinsufficiency in Two Fetuses: A Case Series

The Application of Clinical Genetics
Agata Kuci&nacute;ska,1 Lech Dudarewicz,1 Beata Anna Nowakowska,2 Maciej Geremek,2 Urszula Wysocka,1 &Lstrok;ukasz Przesór,1 Dobromi&lstrok;a Bara&nacute;ska,3 Piotr Grzelak,3 Agnieszka Gach1 1Department of Genetics, Polish Mother’s ...
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A   +8 more
doaj  

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. [PDF]

Am J Hum Genet, 2015
Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschké P, Delrue MA, Lacombe D, Guion-Almeida ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ, Kurihara H, Saal HM, Weaver DD, Katsanis N, Lyonnet S, Golzio C, Clouthier DE, Amiel J.   +32 more
europepmc   +1 more source

Revisión bibliográfica sobre síndrome de Treacher Collins

Revista Chilena de Anestesia, 2019
Sandra Carolina Quiroga, Daniel Alberto Guzmán, Bernardo Reyes   +2 more
doaj   +1 more source