Results 71 to 80 of about 790 (163)

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

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

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

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

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  

Viable Ednra ^Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation. [PDF]

Mamm Genome, 2016
Sabrautzki S, Sandholzer MA, Lorenz-Depiereux B, Brommage R, Przemeck G, Vargas Panesso IL, Vernaleken A, Garrett L, Baron K, Yildirim AO, Rozman J, Rathkolb B, Gau C, Hans W, Hoelter SM, Marschall S, Stoeger C, Becker L, Fuchs H, Gailus-Durner V, Klingenspor M, Klopstock T, Lengger C, Stefanie L, Wolf E, Strom TM, Wurst W, de Angelis MH.   +27 more
europepmc   +1 more source

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype. [PDF]

Am J Med Genet A, 2013
Luquetti DV, Hing AV, Rieder MJ, Nickerson DA, Turner EH, Smith J, Park S, Cunningham ML.   +7 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

Mandibulofacial Dysostosis in an African Infant [PDF]

Archives of Disease in Childhood, 1953
openaire   +2 more sources