A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

BACKGROUND: Grebe dysplasia, Hunter-Thompson dysplasia, and du Pan dysplasia constitute a spectrum of skeletal dysplasias inherited as an autosomal recessive trait characterized by short stature, severe acromesomelic shortening of the limbs, and normal axial skeleton. The majority of patients with t...

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Detalles Bibliográficos
Publicado en:Orphanet J Rare Dis
Main Authors: Stange, Katja, Désir, Julie, Kakar, Naseebullah, Mueller, Thomas D., Budde, Birgit S., Gordon, Christopher T., Horn, Denise, Seemann, Petra, Borck, Guntram
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2015
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Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4482310/
https://ncbi.nlm.nih.gov/pubmed/26105076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0299-5
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