Alström Syndrome is associated with short stature and reduced GH reserve

INTRODUCTION: Alström Syndrome (ALMS) is a rare autosomal recessive monogenic disease included in an emerging class of genetic disorders called ‘ciliopathies’ and is likely to impact the central nervous system as well as metabolic and endocrine function. Individuals with ALMS present clinical featur...

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Detaylı Bibliyografya
Asıl Yazarlar: Romano, S., Maffei, P., Bettini, V., Milan, G., Favaretto, F., Gardiman, M., Marshall, J.D., Greggio, N.A., Pozzan, G.B., Collin, G.B., Naggert, J.K., Bronson, R., Vettor, R.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2013
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3718851/
https://ncbi.nlm.nih.gov/pubmed/23445176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cen.12180
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