PMC Links for Nucleotide (Select 1519245338) - PMC

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Items: 5

Select item 11802481.

Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

Victor L. Ruiz-Perez, Stuart W. J. Tompson, Helen J. Blair, Cecilia Espinoza-Valdez, Pablo Lapunzina, Elias O. Silva, Ben Hamel, John L. Gibbs, Ian D. Young, Michael J. Wright, Judith A. Goodship

Am J Hum Genet. 2003 Mar; 72(3): 728–732. Published online 2003 Feb 4. doi: 10.1086/368063

PMCID:: PMC1180248

Abstract Article PDF–323K

Select item 1249712.

Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism

Haruko Takeda, Marika Takami, Tomoko Oguni, Takehito Tsuji, Kazuhiro Yoneda, Hiroaki Sato, Naoya Ihara, Tomohito Itoh, Srinivas R. Kata, Yuji Mishina, James E. Womack, Yasuo Moritomo, Yoshikazu Sugimoto, Tetsuo Kunieda

Proc Natl Acad Sci U S A. 2002 Aug 6; 99(16): 10549–10554. Published online 2002 Jul 22. doi: 10.1073/pnas.152337899

PMCID:: PMC124971

Abstract Article PDF–946K

Select item 68046593.

A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2

Ikuko Ohashi, Yumi Enomoto, Takuya Naruto, Yoshinori Tsurusaki, Yukiko Kuroda, Hiroshi Ishikawa, Makiko Ohyama, Noriko Aida, Gen Nishimura, Kenji Kurosawa

Hum Genome Var. 2019; 6: 40. Published online 2019 Aug 26. doi: 10.1038/s41439-019-0071-9

PMCID:: PMC6804659

Abstract Article PDF–687K

Select item 58036844.

Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family

Barbara Vona, Reza Maroofian, Geetu Mendiratta, Matthew Croken, Siwu Peng, Xiaoqian Ye, Jamileh Rezazadeh, Paulina Bahena, Caroline Lekszas, Thomas Haaf, Lisa Edelmann, Lisong Shi

Mol Syndromol. 2017 Dec; 9(1): 5–14. Published online 2017 Sep 22. doi: 10.1159/000480458