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

Marisol Ibarra-Ramirez; Luis Daniel Campos-Acevedo; Jose Lugo-Trampe; Laura E. Martínez-Garza; Víctor Martinez-Glez; María Valencia-Benitez; Pablo Lapunzina; Víctor Ruiz-Peréz

doi:10.12659/AJCR.905976

12 December 2017 : Case report Mexico

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

Rare disease

Marisol Ibarra-Ramirez^1ABCDEF*, Luis Daniel Campos-Acevedo^1ABC, Jose Lugo-Trampe^1BF, Laura E. Martínez-Garza^1AEF, Víctor Martinez-Glez^23CD, María Valencia-Benitez^34CD, Pablo Lapunzina^23CD, Víctor Ruiz-Peréz^34CDEF

DOI: 10.12659/AJCR.905976

Am J Case Rep 2017; 18:1325-1329

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

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

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