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Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia
Author(s) -
Regenbogen Lucian,
Godel Victor,
Goya Viorica,
Goodman Richard M.
Publication year - 1982
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1982.tb00957.x
Subject(s) - genetic counseling , genetics , dysplasia , genetic heterogeneity , genetic disorder , osteochondrodysplasia , biology , medicine , phenotype , anatomy , gene
A family with oculoauriculovertebral dysplasia is reported in which there are nine affected members spanning three consecutive generations. It is concluded that despite the known genetic heterogeneity in this disorder, there is an autosomal dominant form. Thus, genetic counseling can only be given after proper completion of all the necessary clinical and family studies.
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