Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Short Stature, Idiopathic

OMIM:604271
Mode of inheritance:Autosomal dominant
Disease classification:Not elsewhere classified


Mutations

Gene SymbolGHSR
Reference transcriptNM_198407.2
DNA Changec.611C>A
A.A. Changep.Ala204Glu
Exon/Intronexon 1
Mutation Typesubstitution
ReferencePantel J, Legendre M, Cabrol S, Hilal L, Hajaji Y, Morisset S, Nivot S, Vie-Luton MP, Grouselle D, de Kerdanet M, Kadiri A, Epelbaum J, Le Bouc Y, Amselem S.Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature.
J Clin Invest. 2006 Mar;116(3):760-8.