Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene. | BMC Med Genet;9: 92, 2008 Oct 23. | MEDLINE

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Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.

Ulucan, Hakan; Gül, Davut; Sapp, Julie C; Cockerham, John; Johnston, Jennifer J; Biesecker, Leslie G.

Affiliation

Ulucan H; Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA. ulucanh@mail.nih.gov

BMC Med Genet ; 9: 92, 2008 Oct 23.

Article in En | MEDLINE | ID: mdl-18947413

Subject(s)

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ellis-Van Creveld Syndrome / Proteins / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Child / Female / Humans / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2008 Document type: Article Affiliation country: Country of publication:

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ellis-Van Creveld Syndrome / Proteins / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Child / Female / Humans / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2008 Document type: Article Affiliation country: Country of publication: