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Can Multiple Hereditary Exostoses Overlap With Mesomelic Dysplasia?

BACKGROUND: We studied an unusual combination of severe short stature, mesomelia (Leri-Weill dyschondrosteosis syndrome), and multiple exostosis in several family subjects over three generations. The pattern of inheritance was compatible with autosomal dominant. METHODS: Of 21 affected members over...

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Detalles Bibliográficos
Autores principales: Al Kaissi, Ali, Ben Ghachem, Maher, Ben Chehida, Farid, Hofstaetter, Jochen G., Grill, Franz, Ganger, Rudolf, Kircher, Susanne Gerit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elmer Press 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4931807/
https://www.ncbi.nlm.nih.gov/pubmed/27429682
http://dx.doi.org/10.14740/jocmr2593w