Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome

Ellis-van Creveld syndrome (EvC) is an autosomal recessive inherited disease resulting from mutations in EVC1 or EVC2. Patients with this condition normally have chondrodysplasia, postaxial polydactyly, ectodermal dysplasia and congenital heart defects. We report the case of a 13-year-old Tunisian c...

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Dettagli Bibliografici
Pubblicato in:Int J Pediatr Adolesc Med
Autori principali: Ajmi, Houda, Ruiz Perez, Victor L., Hassayoun, Saida, Mabrouk, Sameh, Mahdoui, Sana, Boughzela, Essia, Zouari, Noura, Abroug, Saoussan
Natura: Artigo
Lingua:Inglês
Pubblicazione: King Faisal Specialist Hospital and Research Centre 2015
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6372401/
https://ncbi.nlm.nih.gov/pubmed/30805457
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ijpam.2015.08.004
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