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Hypoparathyroidism sensorineural deafness and renal disease
GATA3
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
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
Parathyroid tumor (gene panel)
CASR
,
CDC73
,
MEN1
,
RET
Parathyroid tumor (4 genes) - KUL
Neonatal severe primary hyperparathyroidism
,
Familial hypocalciuric hypercalcemia type 1
,
Autosomal dominant hypocalcemia
Centrum Menselijke Erfelijkheid - KUL
WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome
CXCR4
WHIM syndrome
Centrum Menselijke Erfelijkheid - KUL
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