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Sturge-Weber syndrome (gene panel)
Sturge-Weber syndrome (65 genes) - KUL
Sturge-Weber syndrome
Centrum Menselijke Erfelijkheid - KUL
Congenital hemangioma (2 genes)
GNAQ
,
GNA11
Familial multiple nevi flammei
,
Sturge-Weber syndrome
,
Uveal melanoma
Centrum Menselijke Erfelijkheid - KUL
Ocular albinism and oculocutaneous albinism type 1, 2, 3, 4, 6, 7, 8 (gene panel)
TYR
,
OCA2
,
TYRP1
,
SLC45A2
,
SLC24A5
,
LRMDA
,
GPR143
Ocular and oculocutaneous albinism - UGent
Oculocutaneous albinism type 1A
,
Oculocutaneous albinism type 1B
,
Oculocutaneous albinism type 2
,
Oculocutaneous albinism type 3
,
Oculocutaneous albinism type 4
,
Oculocutaneous albinism type 6
,
Oculocutaneous albinism type 7
Centrum Medische Genetica - UZ Gent
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder ( Martinez-Frias) syndrome
RFX6
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
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