Article
Alström syndrome is associated with short stature and reduced GH reserve.
Clinical endocrinology - 1 Oct 2013
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
Abstract excerpt
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 features resembling a growth hormone deficiency (GHD) condition, but thus far no study has specifically investigated this...
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