PMC Articles for MedGen (Select 346633) - PMC

Select item 92795801.

Penttinen syndrome‐associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling

Audrey Nédélec, Emilie M. Guérit, Guillaume Dachy, Sandrine Lenglez, Lok San Wong, Florence A. Arts, Jean‐Baptiste Demoulin

J Cell Mol Med. 2022 Jul; 26(14): 3902–3912. Published online 2022 Jun 10. doi: 10.1111/jcmm.17427

PMCID:: PMC9279580

Abstract Article PDF–12M

Select item 63574002.

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report

E. G. Okuneva, A. A. Kozina, N. V. Baryshnikova, A. Yu Krasnenko, K. Yu Tsukanov, O. I. Klimchuk, E. I. Surkova, V. V. Ilinsky

BMC Dermatol. 2019; 19: 4. Published online 2019 Jan 31. doi: 10.1186/s12895-019-0084-6

PMCID:: PMC6357400

Abstract Article PDF–1.8M

Select item 45649353.

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

Jennifer J. Johnston, Monica Y. Sanchez-Contreras, Kim M. Keppler-Noreuil, Julie Sapp, Molly Crenshaw, NiCole A. Finch, Valerie Cormier-Daire, Rosa Rademakers, Virginia P. Sybert, Leslie G. Biesecker

Am J Hum Genet. 2015 Sep 3; 97(3): 465–474. Published online 2015 Aug 13. doi: 10.1016/j.ajhg.2015.07.009

PMCID:: PMC4564935

Abstract Article PDF–2.0M

Select item 113203484.

LEMD2‐associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene

Alyssia Matter, Christina Kaufman, Nadia Zürcher, Daniela Lenggenhager, Patrice Grehten, Deborah Bartholdi, Laura Horka, Johannes Häberle, Georgios Makris

Aging Cell. 2024 Aug; 23(8): e14189. Published online 2024 May 16. doi: 10.1111/acel.14189