Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene. [electronic resource]

By:

Caro-Contreras, Alan

Contributor(s):

Alcántara-Ortigoza, Miguel A
Ahumada-Pérez, Juan F
González-Del Angel, Ariadna

Producer: 20200212Description: 118-122 p. digitalISSN:

1552-4833

Subject(s):

Arthrogryposis -- diagnostic imaging
Child, Preschool
Databases, Genetic
Female
Heterozygote
Humans
Infant
Infant, Newborn
Male
Pectus Carinatum -- diagnostic imaging
Repressor Proteins -- genetics

Online resources:

Available from publisher's website

In: American journal of medical genetics. Part A vol. 179

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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

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Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene.

APA

Caro-Contreras A., Alcántara-Ortigoza M. A., Ahumada-Pérez J. F. & González-Del Angel A. (20200212). Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene. : American journal of medical genetics. Part A.

Chicago

Caro-Contreras Alan, Alcántara-Ortigoza Miguel A, Ahumada-Pérez Juan F and González-Del Angel Ariadna. 20200212. Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene. : American journal of medical genetics. Part A.

Harvard

Caro-Contreras A., Alcántara-Ortigoza M. A., Ahumada-Pérez J. F. and González-Del Angel A. (20200212). Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene. : American journal of medical genetics. Part A.

MLA

Caro-Contreras Alan, Alcántara-Ortigoza Miguel A, Ahumada-Pérez Juan F and González-Del Angel Ariadna. Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene. : American journal of medical genetics. Part A. 20200212.

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