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[Oto-palato-digital type I syndrome in five generations. Relationship to the type II form].

作者:Bernard Le Marec, Sylvie Odent, E. Bracq, M. B. Bulard, J Bourdinière, Babut Jm · 发表于:PubMed · 年份:1988 · 被引用次数:8 · 研究领域:Congenital Ear and Nasal Anomalies、Congenital heart defects research、Craniofacial Disorders and Treatments

Three cases of oto-palato-digital syndrome (OPD) are described. They are from the same family, in which the syndrome is an X linked recessive disorder, transmitted through five generations. These cases are classified rather in the OPD type I. The limit between OPD I and II is discussed. The hypothesis of two allelic genes is suggested.