Meier-Gorlin syndrome

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females a...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: de Munnik, Sonja A., Hoefsloot, Elisabeth H., Roukema, Jolt, Schoots, Jeroen, Knoers, Nine VAM, Brunner, Han G., Jackson, Andrew P., Bongers, Ernie MHF
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2015
Matèries:
Review
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4574002/
https://ncbi.nlm.nih.gov/pubmed/26381604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0322-x
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars