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...

Descripción completa

Detalles Bibliográficos
Autores principales: Stange, Katja, Désir, Julie, Kakar, Naseebullah, Mueller, Thomas D., Budde, Birgit S., Gordon, Christopher T., Horn, Denise, Seemann, Petra, Borck, Guntram
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4482310/
https://www.ncbi.nlm.nih.gov/pubmed/26105076
http://dx.doi.org/10.1186/s13023-015-0299-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4482310/
https://www.ncbi.nlm.nih.gov/pubmed/26105076
http://dx.doi.org/10.1186/s13023-015-0299-5

Ejemplares similares