Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype.
Faivre
L
L
Cormier-Daire
V
V
Lapierre
J M
JM
Colleaux
L
L
Jacquemont
S
S
Geneviéve
D
D
Saunier
P
P
Munnich
A
A
Turleau
C
C
Romana
S
S
Prieur
M
M
De Blois
M C
MC
Vekemans
M
M
D000328:Adult; D051792:Basic Helix-Loop-Helix Proteins; D002675:Child, Preschool; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D017353:Gene Deletion; D018257:Helix-Loop-Helix Motifs / Q000235:genetics; D006801:Humans; D008297:Male; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*
D051792:Basic Helix-Loop-Helix Proteins; D012097:Repressor Proteins; C491094:SIM1 protein, human