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Items: 3

1.
Molecular mechanisms of Ellis-van Creveld gene variations in ventricular septal defect
Fadi Liu, Xiao Liu, Zhenyan Xu, Ping Yuan, Qiongqiong Zhou, Jiejing Jin, Xia Yan, Zixuan Xu, Qing Cao, Jianhua Yu, Yingzhang Cheng, Rong Wan, Kui Hong
Mol Med Rep. 2018 Jan; 17(1): 1527–1536. Published online 2017 Nov 15. doi: 10.3892/mmr.2017.8088
PMCID:
PMC5780092
AbstractArticlePDF–1.6M
2.
Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome
Marisol Ibarra-Ramirez, Luis Daniel Campos-Acevedo, Jose Lugo-Trampe, Laura E. Martínez-Garza, Víctor Martinez-Glez, María Valencia-Benitez, Pablo Lapunzina, Víctor Ruiz-Peréz
Am J Case Rep. 2017; 18: 1325–1329. Published online 2017 Dec 12. doi: 10.12659/AJCR.905976
PMCID:
PMC5737115
AbstractArticlePDF–4.4M
3.
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
AbstractArticlePDF–323K

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