A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome.
K
K
Steindl
A M
AM
Alazami
K P
KP
Bhatia
J T
JT
Wuerfel
D
D
Petersen
R
R
Cartolari
G
G
Neri
C
C
Klein
B
B
Mongiardo
F S
FS
Alkuraya
S A
SA
Schneider
D000505:Alopecia / Q000235:genetics; D001145:Arrhythmias, Cardiac / Q000235:genetics; D001480:Basal Ganglia Diseases; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003920:Diabetes Mellitus / Q000235:genetics; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D016366:Open Reading Frames; D010375:Pedigree; D043743:Ubiquitin-Protein Ligase Complexes
C556016:DCAF17 protein, human; D009687:Nuclear Proteins; D043743:Ubiquitin-Protein Ligase Complexes