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Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II

We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother′s radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the...

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Detalles Bibliográficos
Autores principales: Kaissi, Ali Al, Kraschl, Raimund, Kaulfersch, Wilhelm, Grill, Franz, Ganger, Rudolf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574794/
https://www.ncbi.nlm.nih.gov/pubmed/26401283
http://dx.doi.org/10.1002/ccr3.317