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...

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Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: 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
Langue:Inglês
Publié: BioMed Central 2015
Sujets:
Review
Accès en ligne: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
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