Results 111 to 120 of about 64,652,082 (128)

A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia

The Cleft Palate Craniofacial Journal
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare craniofacial syndrome due to pathogenic variants in EFTUD2 . Affected patients may present with cleft palate, dysmorphic craniofacial features, short stature, microcephaly, developmental delay/intellectual disability, and variable ...
Katerina L. Aris, Richard E. Kirschner, Emily Hrach, Brandon S. Stone   +3 more
openaire   +2 more sources

Array‐CGH is an effective first‐tier diagnostic test for EFTUD2‐associated congenital mandibulofacial dysostosis with microcephaly

Clinical Genetics, 2013
Mandibulofacial dysostosis with microcephaly (MFDM) is a sporadic malformation syndrome with severe craniofacial abnormalities, microcephaly, developmental delay, and dysmorphic features. Most cases of clinically diagnosed MFDM remain genetically unexplained, and to the best of our knowledge a total of 35 patients, 31 different mutations, 4 deletions ...
S K, Gandomi, M, Parra, D, Reeves, V, Yap, C-L, Gau   +4 more
openaire   +2 more sources

Whole-Exome Sequencing Revealed a Novel De Novo Pathogenic EFTUD2 Variant in Mandibulofacial Dysostosis, Guion-Almeida Type: Reinforcing Links to Choanal and Oesophageal Atresia

International Journal of Developmental Neuroscience
Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare autosomal dominant disorder characterized by malar and mandibular hypoplasia, microcephaly and diverse craniofacial and extracranial malformations, caused by pathogenic variants in the ...
Richard J Sinke, Omid Jazayeri, Nassim Gorjizadeh   +2 more
exaly   +2 more sources

Mandibulofacial dysostosis with microcephaly caused by a novel "EFTUD2" mutation in a Chinese infant

2014
Poster ...
Chung, BHY, Amiel, J, Gordon, CT, Tan, TY, Oufadem, M, Chan, HB, Chu, WY, Fung, GPC   +7 more
openaire   +1 more source

eP246: Novel EFTUD2 variant adds to understanding of phenotypic spectrum of mandibulofacial dysostosis with microcephaly

Genetics in Medicine, 2022
Kathleen Shields, Kate Mowrey, Paul Hillman   +2 more
openaire   +1 more source

Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider analysis?

European Journal of Medical Genetics, 2022
Byung Yoon Choi, Jung Min Ko, Jong-Hee Chae   +2 more
exaly  

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

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

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

Diagnostics, 2020
Byung Yoon Choi, Jin Hee Han, Da-Hye Lee
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
Yaping Yang, Arindam Sarkar, Lisa Emrick
exaly