Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit

The Piepkorn type of lethal osteochondrodysplasia (POCD) is a rare and lethal dwarfing condition. Four cases have been reported to date. The characteristic features are distinctly shortened “flipper‐like” limbs, polysyndactyly, excessive underossification, especially of the limb bones and vertebrae,...

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Detalles Bibliográficos
Autores principales: Rehder, Helga, Laccone, Franco, Kircher, Susanne G., Schild, Ralf L., Rapp, Christiane, Bald, Rainer, Schulze, Bernt, Behunova, Jana, Neesen, Juergen, Schoner, Katharina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
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Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6585644/
https://www.ncbi.nlm.nih.gov/pubmed/29797497
http://dx.doi.org/10.1002/ajmg.a.38828

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