PMC Articles for MedGen (Select 1808104) - PMC

Select item 59045671.

Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature

Jennifer A.F. Tender, Carlos R. Ferreira

Transl Sci Rare Dis. 2018; 3(1): 37–43. Published online 2018 Apr 13. doi: 10.3233/TRD-180022

PMCID:: PMC5904567

Abstract Article PDF–248K

Select item 41354052.

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia

Davut Pehlivan, Ender Karaca, Hatip Aydin, Christine R Beck, Tomasz Gambin, Donna M Muzny, B Bilge Geckinli, Ali Karaman, Shalini N Jhangiani, Centers for Mendelian Genomics, Richard A Gibbs, James R Lupski

Eur J Hum Genet. 2014 Sep; 22(9): 1145–1148. Published online 2014 Jan 15. doi: 10.1038/ejhg.2013.291

PMCID:: PMC4135405

Abstract Article PDF–758K

Select item 10160293.

Cerebrofaciothoracic dysplasia: a new family.

N Philip, A Guala, A Moncla, M Monlouis, S Aymé, F Giraud

J Med Genet. 1992 Jul; 29(7): 497–499.

PMCID:: PMC1016029

Summary Page Browse PDF–819K

Select item 93105634.

Defining mitochondrial protein functions through deep multi-omic profiling

Jarred W. Rensvold, Evgenia Shishkova, Yuriy Sverchkov, Ian J. Miller, Arda Cetinkaya, Angela Pyle, Mateusz Manicki, Dain R. Brademan, Yasemin Alanay, Julian Raiman, Adam Jochem, Paul D. Hutchins, Sean R. Peters, Vanessa Linke, Katherine A. Overmyer, Austin Z. Salome, Alexander S. Hebert, Catherine E. Vincent, Nicholas W. Kwiecien, Matthew J.P. Rush, Michael S. Westphall, Mark Craven, Nurten A. Akarsu, Robert W. Taylor, Joshua J. Coon, David J. Pagliarini

Nature. Author manuscript; available in PMC 2022 Dec 1.

Published in final edited form as: Nature. 2022 Jun; 606(7913): 382–388. Published online 2022 May 25. doi: 10.1038/s41586-022-04765-3