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Autoimmune lymphoproliferative syndrome, type V
CTLA4
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Centrum Menselijke Erfelijkheid - KUL
Waardenburg syndrome (gene panel)
EDN3
,
EDNRB
,
MITF
,
PAX3
,
SNAI2
,
SOX10
Waardenburg syndrome (6 genes) - UZA
Waardenburg syndrome type 1
,
Waardenburg syndrome type 2
,
Waardenburg syndrome type 3
,
Waardenburg-Shah syndrome
Centrum Medische Genetica - UZ Antwerpen
Generalized Arterial Calcification of Infancy
ENPP1
,
ABCC6
Generalized arterial calcification of infancy
Centrum Medische Genetica - UZ Gent
Vascular mineralisation
ANKH
,
NT5E
,
ENPP1
Centrum Medische Genetica - UZ Gent
Alport autosomal recessive and X-linked and hematuria (3 genes)
COL4A3
,
COL4A4
,
COL4A5
Alport (X-linked and recessive) (3 genes) - IPG
Autosomal recessive Alport syndrome
,
X-linked Alport syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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