Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle. [PDF]
Genes (Basel), 2020 Sieck RL +8 more
europepmc +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
Microssomia otomandibular: relato de caso Otomandibular microsomia: case report
Brazilian Journal of Otorhinolaryngology, 2011 Jozinete Vieira Pereira +4 more
doaj +1 more source
A novel <i>EFTUD2</i> splicing variant causing mandibulofacial dysostosis with microcephaly: a case report. [PDF]
Transl PediatrXu Y +6 more
europepmc +1 more source
A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review [PDF]
, 2008 Al Kaissi, Ali +3 more
core +2 more sources
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 +4 more
core +1 more source
First case report of Nager syndrome patient from Georgia. [PDF]
SAGE Open Med Case Rep, 2022 Tkemaladze T +5 more
europepmc +1 more source
Revisión bibliográfica sobre síndrome de Treacher Collins
Revista Chilena de Anestesia, 2019 Sandra Carolina Quiroga +2 more
doaj +1 more source
"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype. [PDF]
Am J Med Genet A, 2013 Luquetti DV +7 more
europepmc +1 more source