Results 71 to 80 of about 311 (84)

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey

American Journal of Medical Genetics, Part A, 2021
Kelly Smallwood, Kathryn Weaver, Robert Hopkin   +2 more
exaly  

A novel de novo missense mutation in EFTUD2 identified by whole‐exome sequencing in mandibulofacial dysostosis with microcephaly

Journal of Clinical Laboratory Analysis, 2022
Huaqin Sun, Ting Hu, Mei Yang
exaly  

First-trimester detection of micrognathia as a presentation of mandibulofacial dysostosis with microcephaly

Journal of Obstetrics and Gynaecology, 2021
Dong-Zhi Li
exaly  

A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report

Journal of Physical Education and Sports Management, 2022
Muhammad Kohailan, Waleed Aamer, Khalid Fakhro   +2 more
exaly  

Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea

Diagnostics, 2020
Byung Yoon Choi, Jinhee Han, Da-Hye Lee   +2 more
exaly  

Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome

American Journal of Medical Genetics Part A, 2015
Arindam, Sarkar, Lisa T, Emrick, Eboni M, Smith, Elise G, Austin, Yaping, Yang, Jill V, Hunter, Fernando, Scaglia, Seema R, Lalani   +7 more
openaire   +2 more sources

“Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype

American Journal of Medical Genetics, Part A, 2013
Daniela Varela Luquetti
exaly  

Faculty Opinions recommendation of Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2012
openaire   +1 more source

Neurocranial Morphology in Mandibulofacial Dysostosis (Treacher Collins Syndrome)

Cleft Palate-Craniofacial Journal, 1993
Hans Friede, Ellen A Begole, Alvaro A Figueroa   +2 more
exaly  

Cranial base and face in mandibulofacial dysostosis

American Journal of Medical Genetics Part A, 1993
Sven Kreiborg
exaly