PMC Articles for MedGen (Select 96063) - PMC

Select item 64473401.

Scleromyxedema (Arndt - Gottron Syndrome) Developing Under Tenofovir Treatment for Hepatitis B: Unique Presentation in a Bulgarian Patient!

Ivanka Temelkova, James W. Patterson, Georgi Tchernev

Open Access Maced J Med Sci. 2019 Mar 15; 7(5): 782–785. Published online 2019 Feb 28. doi: 10.3889/oamjms.2019.181

PMCID:: PMC6447340

Abstract Article PDF–365K

Select item 14375152.

EDS IV (acrogeria): new autosomal dominant and recessive

F M Pope, A C Nicholls, P M Jones, R S Wells, D Lawrence

J R Soc Med. 1980 Mar; 73(3): 180–186.

PMCID:: PMC1437515

Summary Page Browse PDF–2.1M

Select item 94119153.

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx, Tohru Sonoda, Andreas R Janecke, Anne Slavotinek, Nicol C Voermans, Yves Lacassie, Roberto Mendoza-Londono, Klaas J Wierenga, Parul Jayakar, William A Gahl, Cynthia J Tifft, Luis E Figuera, Yvonne Hilhorst-Hofstee, Alessandra Maugeri, Ken Ishikawa, Tomoko Kobayashi, Yoko Aoki, Toshihiro Ohura, Hiroshi Kawame, Michihiro Kono, Kosuke Mochida, Chiho Tokorodani, Kiyoshi Kikkawa, Takayuki Morisaki, Tetsuyuki Kobayashi, Takaya Nakane, Akiharu Kubo, Judith D Ranells, Ohsuke Migita, Glenda Sobey, Anupriya Kaur, Masumi Ishikawa, Tomomi Yamaguchi, Naomichi Matsumoto, Fransiska Malfait, Noriko Miyake, Tomoki Kosho

J Med Genet. 2022 Sep; 59(9): 865–877. Published online 2021 Nov 23. doi: 10.1136/jmedgenet-2020-107623

PMCID:: PMC9411915

Abstract Article PDF–3.0M

Select item 72168044.

Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency

Charlotte K. Lautrup, Keng W. Teik, Ai Unzaki, Shuji Mizumoto, Delfien Syx, Heng H. Sin, Irene K. Nielsen, Sara Markholt, Shuhei Yamada, Fransiska Malfait, Naomichi Matsumoto, Noriko Miyake, Tomoki Kosho

Mol Genet Genomic Med. 2020 May; 8(5): e1197. Published online 2020 Mar 4. doi: 10.1002/mgg3.1197

PMCID:: PMC7216804

Abstract Article PDF–935K

Select item 56439715.

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes

Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Soheila Sotoudeh, Hamidreza Mahmoudi, Maryam Daneshpazhooh, Nessa Aghazadeh, Rebecca Adams, Alireza Ghanadan, Sirous Zeinali, Paolo Fortina, Jouni Uitto

Eur J Hum Genet. 2017 Nov; 25(11): 1282–1285. Published online 2017 Sep 6. doi: 10.1038/ejhg.2017.137