PMC Articles for MedGen (Select 341373) - PMC

Select item 112887141.

Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies in a Young Infant: First Case Entity of Casamassima–Morton–Nance Syndrome from Asia

Radhapyari Lourembam, Manish Kumar Gupta, Poonam Sherwani, Prashant Kumar Verma

J Pediatr Genet. 2024 Sep; 13(3): 227–231. Published online 2022 Jul 11. doi: 10.1055/s-0042-1749367

PMCID:: PMC11288714

Abstract Article PDF–651K

Select item 45399472.

Acute Inhibition of MEK Suppresses Congenital Melanocytic Nevus Syndrome in a Murine Model Driven by Activated NRAS and Wnt Signaling

Jeffrey S Pawlikowski, Claire Brock, Sheau-Chiann Chen, Lara Al-Olabi, Colin Nixon, Fiona McGregor, Simon Paine, Estelle Chanudet, Wendy Lambie, William M Holmes, James M Mullin, Ann Richmond, Hong Wu, Karen Blyth, Ayala King, Veronica A Kinsler, Peter D Adams

J Invest Dermatol. 2015 Aug; 135(8): 2093–2101. Prepublished online 2015 Mar 27. Published online 2015 May 14. doi: 10.1038/jid.2015.114

Correction in:: J Invest Dermatol. 2015 Nov; 135(11): 2902.

PMCID:: PMC4539947

Abstract Article PDF–3.0M

Select item 104738893.

TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome

Guozhuang Li, Alanna Strong, Haojun Wang, Ji-Sun Kim, Deborah Watson, Sen Zhao, Courtney Vaccaro, Erum Hartung, Hakon Hakonarson, Terry Jianguo Zhang, Philip F. Giampietro, Nan Wu

Am J Med Genet A. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: Am J Med Genet A. 2022 Dec; 188(12): 3469–3481. Published online 2022 Sep 26. doi: 10.1002/ajmg.a.62972

PMCID:: PMC10473889

Abstract Article PDF–854K

Select item 44747194.

Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat

Koichiro Abe, Nobuhiko Takamatsu, Kumiko Ishikawa, Toshiko Tsurumi, Sho Tanimoto, Yukina Sakurai, Thomas Lisse, Kenji Imai, Tadao Serikawa, Tomoji Mashimo

PLoS One. 2015; 10(6): e0130231. Published online 2015 Jun 19. doi: 10.1371/journal.pone.0130231