POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism

Primordial dwarfism (PD) is a phenotype characterized by profound growth retardation that is prenatal in onset. Significant strides have been made in the last few years toward improved understanding of the molecular underpinning of the limited growth that characterizes the embryonic and postnatal de...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Shaheen, Ranad, Faqeih, Eissa, Shamseldin, Hanan E., Noche, Ramil R., Sunker, Asma, Alshammari, Muneera J., Al-Sheddi, Tarfa, Adly, Nouran, Al-Dosari, Mohammed S., Megason, Sean G., Al-Husain, Muneera, Al-Mohanna, Futwan, Alkuraya, Fowzan S.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2012
Matèries:
Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3415549/
https://ncbi.nlm.nih.gov/pubmed/22840364
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.05.025
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars