Literature DB >> 25174843

Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome.

Valentina D'Ambrosio1, Carmela Votino, Teresa Cos, Sebastien Boulanger, Annelies Dheedene, Jacques Jani, Kathelijn Keymolen.   

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Year:  2014        PMID： 25174843     DOI： 10.1002/pd.4490

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  3 in total

1.  Novel large deletion involving EVC and EVC2 in Ellis-van Creveld syndrome.

Authors:  Hiroki Sato; Kenichi Suga; Masashi Suzue; Yukako Honma; Yasunobu Hayabuchi; Shunsuke Miyai; Hiroki Kurahashi; Ryuji Nakagawa
Journal:  Hum Genome Var       Date:  2022-05-17

2.  Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome.

Authors:  Xiangjun Huang; Yi Guo; Hongbo Xu; Zhijian Yang; Xiong Deng; Hao Deng; Lamei Yuan
Journal:  Mol Genet Genomic Med       Date:  2019-07-23       Impact factor: 2.183

3.  Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype.

Authors:  Rodrigo Pratte-Santos; Katyanne Heringer Ribeiro; Thainá Altoe Santos; Terezinha Sarquis Cintra
Journal:  Einstein (Sao Paulo)       Date:  2016 Jan-Mar
  3 in total

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