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Sex determining region Y
SRY
45,X/46,XY mixed gonadal dysgenesis
,
46,XX ovotesticular difference of sex development
,
46,XX testicular difference of sex development
,
46,XY complete gonadal dysgenesis
,
46,XY partial gonadal dysgenesis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Sex determining region Y
SRY
45,X/46,XY mixed gonadal dysgenesis
,
46,XY complete gonadal dysgenesis
,
46,XX ovotesticular difference of sex development
,
46,XY partial gonadal dysgenesis
,
46,XX testicular difference of sex development
Centre de Génétique Humaine - CHU Sart-Tilman
Leiomyomatosis and renal cell cancer
FH
Hereditary leiomyomatosis and renal cell cancer
Centre de Génétique Médicale UCL
Creatine deficiency by Guanidinoacetate methyltransferase deficiency (2 genes)
GAMT
,
GATM
Guanidinoacetate methyltransferase deficiency
,
L-Arginine:glycine amidinotransferase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Glycogen storage disease type 1a
G6PC1
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Centre de Génétique Humaine - CHU Sart-Tilman
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