Literature DB >> 3791682

Oto-Palato-Digital syndrome in four generations of a large family.

U E Pazzaglia, G Beluffi.   

Abstract

A new large family, affected by O-P-D syndrome is reported. Nine members in four consecutive generations have been studied. Computerized tomography study of spine and skull showed abnormalities to be confined to mesodermal derivates, while nervous structures were normal. Transmission pattern may be X-linked with intermediate expression in the female or autosomal dominant with sex limitation of expression.

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Year:  1986        PMID: 3791682     DOI: 10.1111/j.1399-0004.1986.tb00617.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  1 in total

1.  Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28.

Authors:  V Biancalana; B Le Marec; S Odent; J A van den Hurk; A Hanauer
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

  1 in total

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