Severe phenotype in two half-sibs with Adams Oliver syndrome | Zendy

Rosalba SevillaMontoya | Zendy; Braulio Ríos-Flores | Zendy; Elsa Romelia MorenoVerduzco | Zendy; Mauricio Domínguez-Castro | Zendy; Carlos I Rivera-Pedroza | Zendy; Mónica AguinagaRíos | Zendy

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Severe phenotype in two half-sibs with Adams Oliver syndrome

Author(s) -

Rosalba SevillaMontoya,

Braulio Ríos-Flores,

Elsa Romelia MorenoVerduzco,

Mauricio Domínguez-Castro,

Carlos I Rivera-Pedroza,

Mónica AguinagaRíos

Publication year - 2014

Publication title -

archivos argentinos de pediatria

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.236

H-Index - 19

eISSN - 1668-3501

pISSN - 0325-0075

DOI - 10.5546/aap.2014.eng.e108

Subject(s) - phenotype , medicine , genetics , biology , gene

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 Oliver syndrome in which the mother was healthy.

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