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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Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: 2013
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Article
Online dostop: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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