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Select item 87429001.

Prenatal features of mandibulofacial dysostosis Guion-Almeida Type

Vlad Dragoi, Florina Nedelea, Nicolae Gica, Radu Botezatu, Gheorghe Peltecu, Anca Maria Panaitescu

J Med Life. 2021 Sep-Oct; 14(5): 722–725. doi: 10.25122/jml-2020-0082

PMCID:: PMC8742900

Abstract Article PDF–476K

Select item 74999972.

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report

Arthur Jacob, Jennifer Pasquier, Raphael Carapito, Frédéric Auradé, Anne Molitor, Philippe Froguel, Khalid Fakhro, Najeeb Halabi, Géraldine Viot, Seiamak Bahram, Arash Rafii

BMC Med Genet. 2020; 21: 182. Published online 2020 Sep 17. doi: 10.1186/s12881-020-01121-y

PMCID:: PMC7499997

Abstract Article PDF–1.6M

Select item 76906063.

Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle

Renae L. Sieck, Anna M. Fuller, Patrick S. Bedwell, Jack A. Ward, Stacy K. Sanders, Shi-Hua Xiang, Sichong Peng, Jessica L. Petersen, David J. Steffen

Genes (Basel) 2020 Nov; 11(11): 1246. Published online 2020 Oct 22. doi: 10.3390/genes11111246

PMCID:: PMC7690606

Abstract Article PDF–1.7M

Select item 72778414.

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

So Young Kim, Da-hye Lee, Jin Hee Han, Byung Yoon Choi

Diagnostics (Basel) 2020 May; 10(5): 296. Published online 2020 May 12. doi: 10.3390/diagnostics10050296

PMCID:: PMC7277841

Abstract Article PDF–3.1M

Select item 35355785.

“Mandibulofacial Dysostosis with Microcephaly” Caused by EFTUD2 Mutations: Expanding the Phenotype

Daniela V Luquetti, Anne V Hing, Mark J Rieder, Deborah A Nickerson, Emily H Turner, Joshua Smith, Sarah Park, Michael L Cunningham

Am J Med Genet A. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Am J Med Genet A. 2013 Jan; 161(1): 108–113. Published online 2012 Dec 14. doi: 10.1002/ajmg.a.35696

PMCID:: PMC3535578

Abstract Article PDF–3.0M

Select item 42297676.

Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature

Raj Renju, Balagopal R. Varma, Suresh J. Kumar, Parvathy Kumaran

Contemp Clin Dent. 2014 Oct-Dec; 5(4): 532–534. doi: 10.4103/0976-237X.142826

PMCID:: PMC4229767

Abstract Article PDF–1.0M

Select item 43851887.

Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia

Christopher T. Gordon, K. Nicole Weaver, Roseli Maria Zechi-Ceide, Erik C. Madsen, Andre L.P. Tavares, Myriam Oufadem, Yukiko Kurihara, Igor Adameyko, Arnaud Picard, Sylvain Breton, Sébastien Pierrot, Martin Biosse-Duplan, Norine Voisin, Cécile Masson, Christine Bole-Feysot, Patrick Nitschké, Marie-Ange Delrue, Didier Lacombe, Maria Leine Guion-Almeida, Priscila Padilha Moura, Daniela Gamba Garib, Arnold Munnich, Patrik Ernfors, Robert B. Hufnagel, Robert J. Hopkin, Hiroki Kurihara, Howard M. Saal, David D. Weaver, Nicholas Katsanis, Stanislas Lyonnet, Christelle Golzio, David E. Clouthier, Jeanne Amiel

Am J Hum Genet. 2015 Apr 2; 96(4): 519–531. doi: 10.1016/j.ajhg.2015.01.015

PMCID:: PMC4385188

Abstract Article PDF–2.6M

Select item 32766718.

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber, Stuart L. Douglas, Danielle C. Lynch, Chandree Beaulieu, Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide, Blanca Gener, Gabriele Gillessen-Kaesbach, Caroline Nava, Geneviève Baujat, Denise Horn, Usha Kini, Almuth Caliebe, Yasemin Alanay, Gulen Eda Utine, Dorit Lev, Jürgen Kohlhase, Arthur W. Grix, Dietmar R. Lohmann, Ute Hehr, Detlef Böhm, FORGE Canada Consortium, Jacek Majewski, Dennis E. Bulman, Dagmar Wieczorek, Kym M. Boycott

Am J Hum Genet. 2012 Feb 10; 90(2): 369–377. doi: 10.1016/j.ajhg.2011.12.023

PMCID:: PMC3276671

Abstract Article PDF–883K

Select item 32430679.

Mandibulofacial Dysostosis in a Patient with a de novo 2;17 Translocation that Disrupts the HOXD Gene Cluster

David A. Stevenson, Steven B. Bleyl, Teresa Maxwell, Arthur R. Brothman, Sarah T. South

Am J Med Genet A. Author manuscript; available in PMC 2011 Dec 20.

Published in final edited form as: Am J Med Genet A. 2007 May 15; 143A(10): 1053–1059. doi: 10.1002/ajmg.a.31715

PMCID:: PMC3243067

Abstract Article PDF–1.9M

Select item 837990410.

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

Katherine Abell, Robert J Hopkin, Patricia L Bender, Farrah Jackson, Kelly Smallwood, Bonnie Sullivan, Rolf W Stottmann, Howard M Saal, K Nicole Weaver

Am J Med Genet A. Author manuscript; available in PMC 2021 Aug 21.

Published in final edited form as: Am J Med Genet A. 2021 Feb; 185(2): 413–423. Published online 2020 Nov 27. doi: 10.1002/ajmg.a.61977

PMCID:: PMC8379904

Abstract Article PDF–473K

Select item 457028811.

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction

K. Nicole Weaver, Kristin E. Noack Watt, Robert B. Hufnagel, Joaquin Navajas Acedo, Luke L. Linscott, Kristen L. Sund, Patricia L. Bender, Rainer König, Charles M. Lourenco, Ute Hehr, Robert J. Hopkin, Dietmar R. Lohmann, Paul A. Trainor, Dagmar Wieczorek, Howard M. Saal

Am J Hum Genet. 2015 May 7; 96(5): 765–774. doi: 10.1016/j.ajhg.2015.03.011

PMCID:: PMC4570288

Abstract Article PDF–2.6M

Select item 670053312.

Mandibulofacial dysostosis with microcephaly: a syndrome to remember

Joana Brandão Silva, Diana Soares, Miguel Leão, Helena Santos

BMJ Case Rep. 2019; 12(8): e229831. Published online 2019 Aug 13. doi: 10.1136/bcr-2019-229831

PMCID:: PMC6700533

Abstract Article PDF–266K

Select item 1046991213.

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes

Quentin Hennocq, Thomas Bongibault, Sandrine Marlin, Jeanne Amiel, Tania Attie-Bitach, Geneviève Baujat, Lucile Boutaud, Georges Carpentier, Pierre Corre, Françoise Denoyelle, François Djate Delbrah, Maxime Douillet, Eva Galliani, Wuttichart Kamolvisit, Stanislas Lyonnet, Dan Milea, Véronique Pingault, Thantrira Porntaveetus, Sandrine Touzet-Roumazeille, Marjolaine Willems, Arnaud Picard, Marlène Rio, Nicolas Garcelon, Roman H. Khonsari

Front Pediatr. 2023; 11: 1171277. Published online 2023 Aug 17. doi: 10.3389/fped.2023.1171277

PMCID:: PMC10469912

Abstract Article PDF–8.4M

Select item 661160014.

Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse

Marie-Claude Beauchamp, Anissa Djedid, Kevin Daupin, Kayla Clokie, Shruti Kumar, Jacek Majewski, Loydie Anne Jerome-Majewska

PLoS One. 2019; 14(7): e0219280. Published online 2019 Jul 5. doi: 10.1371/journal.pone.0219280

PMCID:: PMC6611600

Abstract Article PDF–1.5M

Select item 910250315.

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

Mei Yang, Yanyan Liu, Ziyuan Lin, Huaqin Sun, Ting Hu

J Clin Lab Anal. 2022 May; 36(5): e24440. Published online 2022 Apr 18. doi: 10.1002/jcla.24440

PMCID:: PMC9102503

Abstract Article PDF–2.0M

Select item 923584416.

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

Muhammad Kohailan, Omayma Al-Saei, Sujitha Padmajeya, Waleed Aamer, Najwa Elbashir, Ammira Al-Shabeeb Akil, Abdul-Rauf Kamboh, Khalid Fakhro

Cold Spring Harb Mol Case Stud. 2022 Jun; 8(4): a006206. doi: 10.1101/mcs.a006206

PMCID:: PMC9235844

Abstract Article PDF–2.9M

Select item 1098540817.

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2

Ying Chen, Run Yang, Xin Chen, Naier Lin, Chenlong Li, Yaoyao Fu, Aijuan He, Yimin Wang, Tianyu Zhang, Jing Ma

Mol Genet Genomic Med. 2024 Apr; 12(4): e2426. Published online 2024 Apr 1. doi: 10.1002/mgg3.2426

PMCID:: PMC10985408

Abstract Article PDF–2.2M

Select item 173517718.

Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1

P Hedera, H Toriello, E Petty

J Med Genet. 2002 Jul; 39(7): 484–488. doi: 10.1136/jmg.39.7.484

PMCID:: PMC1735177

Summary PDF–180K

Select item 257165219.

Mandibulofacial dysostosis (Treacher Collins syndrome): a case report.

D. L. Mittman, O. G. Rodman

J Natl Med Assoc. 1992 Dec; 84(12): 1051–1054.

PMCID:: PMC2571652

Summary Page Browse PDF–1.3M

Select item 511070520.

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

Sibylle Sabrautzki, Michael A. Sandholzer, Bettina Lorenz-Depiereux, Robert Brommage, Gerhard Przemeck, Ingrid L. Vargas Panesso, Alexandra Vernaleken, Lillian Garrett, Katharina Baron, Ali O. Yildirim, Jan Rozman, Birgit Rathkolb, Christine Gau, Wolfgang Hans, Sabine M. Hoelter, Susan Marschall, Claudia Stoeger, Lore Becker, Helmut Fuchs, Valerie Gailus-Durner, Martin Klingenspor, Thomas Klopstock, Christoph Lengger, Leuchtenberger Stefanie, Eckhard Wolf, Tim M. Strom, Wolfgang Wurst, Martin Hrabě de Angelis

Mamm Genome. 2016; 27(11): 587–598. Published online 2016 Sep 26. doi: 10.1007/s00335-016-9664-5

PMCID:: PMC5110705

Abstract Article PDF–1.2M

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