Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome

Case series Patient: — Final Diagnosis: Ellis van Creveld syndrome Symptoms: Conical teeth • polydactyly • short stature Medication: — Clinical Procedure: — Specialty: Pediatrics and Neonatology OBJECTIVE: Rare disease BACKGROUND: Ellis-van Creveld syndrome is an autosomal recessive chondro-ectoderm...

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Detalhes bibliográficos
Publicado no:Am J Case Rep
Main Authors: Ibarra-Ramirez, Marisol, Campos-Acevedo, Luis Daniel, Lugo-Trampe, Jose, Martínez-Garza, Laura E., Martinez-Glez, Víctor, Valencia-Benitez, María, Lapunzina, Pablo, Ruiz-Peréz, Víctor
Formato: Artigo
Idioma:Inglês
Publicado em: International Scientific Literature, Inc. 2017
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5737115/
https://ncbi.nlm.nih.gov/pubmed/29229899
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12659/AJCR.905976
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