Article
Severe phenotype in two half-sibs with Adams Oliver syndrome.
Archivos argentinos de pediatria - 1 Jun 2014
Sevilla-Montoya Rosalba, Ríos-Flores Braulio, Moreno-Verduzco Elsa, Domínguez-Castro Mauricio, Rivera-Pedroza Carlos I, Aguinaga-Ríos Dra Mónica
Abstract excerpt
UNLABELLED: Adams Oliver syndrome (AOS) is a highly variable entity with terminal transverse limb defects (TTLD) and aplasia cutis congenita (ACC) with a wide phenotypic spectrum. Several inheritance models have been observed; the most severe phenotype has been related to an autosomal recessive (AR) pattern of inheritance. OBJECTIVE. To present a family with two half siblings with a severe phenotype of Adams...
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