PMC Articles for MedGen (Select 334982) - PMC

Select item 91921871.

A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings

Maha Alotaibi, Deema Aldhubaiban, Ahmed Alasmari, Leena Alotaibi

Glob Med Genet. 2022 Jun; 9(2): 175–178. Published online 2021 Dec 17. doi: 10.1055/s-0041-1740468

PMCID:: PMC9192187

Select item 94119152.

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 69476053.

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

Lucia Micale, Vito Guarnieri, Bartolomeo Augello, Orazio Palumbo, Emanuele Agolini, Valentina Maria Sofia, Tommaso Mazza, Antonio Novelli, Massimo Carella, Marco Castori

Genes (Basel) 2019 Dec; 10(12): 967. Published online 2019 Nov 25. doi: 10.3390/genes10120967

PMCID:: PMC6947605

Abstract Article PDF–1.1M

Select item 53961874.

Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome

Mika Teraishi, Mikiro Takaishi, Kimiko Nakajima, Mitsunori Ikeda, Yujiro Higashi, Shinji Shimoda, Yoshinobu Asada, Atsushi Hijikata, Osamu Ohara, Yoko Hiraki, Seiji Mizuno, Toshiyuki Fukada, Takahisa Furukawa, Nobuaki Wakamatsu, Shigetoshi Sano

Sci Rep. 2017; 7: 46565. Published online 2017 Apr 19. doi: 10.1038/srep46565

PMCID:: PMC5396187

Abstract Article PDF–1.5M

Select item 25979965.

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Charles E Schwartz, Patrick S Tarpey, Herbert A Lubs, Alain Verloes, Melanie M May, Hiba Risheg, Michael J Friez, P Andrew Futreal, Sarah Edkins, Jon Teague, Sylvain Briault, Cindy Skinner, Astrid Bauer‐Carlin, Richard J Simensen, Sumy M Joseph, Julie R Jones, Josef Gecz, Michael R Stratton, F Lucy Raymond, Roger E Stevenson

J Med Genet. 2007 Jul; 44(7): 472–477. Published online 2007 Mar 16. doi: 10.1136/jmg.2006.048637

PMCID:: PMC2597996

Abstract Article PDF–326K

Select item 19863136.

X–linked Recessive Inheritance in the Ehlers–Danlos Syndrome

P. Beighton

Br Med J. 1968 Aug 17; 3(5615): 409–411. doi: 10.1136/bmj.3.5615.409

PMCID:: PMC1986313

Summary Page Browse PDF–1.0M

Select item 17704297.

A case of 49,XXXXX in which the extra X chromosomes were maternal in origin

Y G Cho, D S Kim, H S Lee, S C Cho, S I Choi

J Clin Pathol. 2004 Sep; 57(9): 1004–1006. doi: 10.1136/jcp.2004.017475

PMCID:: PMC1770429

Abstract Article PDF–131K

Select item 4199918.

Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy

Ercan Demir, Patrizia Sabatelli, Valérie Allamand, Ana Ferreiro, Behzad Moghadaszadeh, Mohamed Makrelouf, Haluk Topaloglu, Bernard Echenne, Luciano Merlini, Pascale Guicheney

Am J Hum Genet. 2002 Jun; 70(6): 1446–1458. Published online 2002 Apr 24. doi: 10.1086/340608

PMCID:: PMC419991

Abstract Article PDF–571K

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