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Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran

BACKGROUND: Gnathodiaphyseal dysplasia (GDD) is an ultrarare autosomal dominant bone dysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, frequent bone fractures at the young age, bowing of tubular bones, and diaphyseal sclerosis of long bones associated with generalize...

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Detalles Bibliográficos
Autores principales: Yassaee, Vahid Reza, Khojasteh, Arash, Hashemi‐Gorji, Farzad, Sadeghi, Hossein, Safiaghdam, Hannaneh, Mirfakhraie, Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482395/
https://www.ncbi.nlm.nih.gov/pubmed/35758145
http://dx.doi.org/10.1002/mgg3.2004