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

Pituitary hormone deficiency, combined, 3

OMIM:221750
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolLHX3
Reference transcriptNM_178138.4
DNA Changec.418G>A
A.A. Changep.Val140Met
Exon/Intronexon 3
Mutation Typesubstitution
ReferenceFritez N, Sobrier ML, Iraqi H, Vié-Luton MP, Netchine I, El Annas A, Pantel J, Collot N, Rose S, Piterboth W, Legendre M2, Chraibi A, Amselem S, Kadiri A, Hilal L.Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.
Clin Endocrinol (Oxf). 2015 Jun;82(6):876-84.