A neonatal form of isolated ACTH deficiency frequently associated with Tpit gene mutations.
Vallette-Kasic
S
S
Laboratoire de génétique moléculaire, Institut de Recherches Cliniques de Montréal, Quebec, Canada.
Pulichino
A M
AM
Gueydan
M
M
Barlier
A
A
David
M
M
Malpuech
G
G
Deal
C
C
Van Vliet
G
G
de Vroede
M
M
Riepe
F
F
Partsch
C J
CJ
Sippell
W
W
Berberoglu
M
M
Atasay
B
B
de Zegher
F
F
Kyllo
J
J
Donohoue
P
P
Dechelotte
P
P
Fassnacht
M
M
Noordam
K
K
Dunkel
L
L
Pigeon
B
B
Weill
J
J
Yigit
S
S
Brauner
R
R
Leger
J
J
Heinrich
J J
JJ
Enjalbert
A
A
Brue
T
T
Drouin
J
J
D000324:Adrenocorticotropic Hormone / Q000172:deficiency*; D005808:Genes, Recessive; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D043202:Steroid Metabolism, Inborn Errors / Q000235:genetics*; D020825:T-Box Domain Proteins; D014157:Transcription Factors / Q000235:genetics*
D018398:Homeodomain Proteins; D020825:T-Box Domain Proteins; C486589:TBX19 protein, human; D014157:Transcription Factors; D000324:Adrenocorticotropic Hormone