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Fragile X syndrome/POF/FXTAS - FMR1 gene CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
,
Premature Ovarian Failure
Centrum Medische Genetica - UZ Brussel VUB
Friedreich ataxia - GAA repeat expansion
FXN
Friedreich ataxia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Friedreich ataxia - GAA repeat expansion
FXN
Friedreich ataxia
Centre de Génétique Humaine - CHU Sart-Tilman
Friedreich ataxia - GAA repeat expansion
FXN
Friedreich ataxia
Centrum Menselijke Erfelijkheid - KUL
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
Hypocalciuric hypercalcemia, familial type I or Hypocalcemia or Hyperparathyroidism, familial isolated (CASR gene)
CASR
Autosomal dominant hypocalcemia
,
Familial hypocalciuric hypercalcemia type 1
,
Neonatal severe primary hyperparathyroidism
Centre de Génétique Humaine - CHU Sart-Tilman
Hypocalciuric Hypercalcemia, Neonatal Severe Hyperparathyroidism, Hypocalcemia
CASR
Neonatal severe primary hyperparathyroidism
,
Familial hypocalciuric hypercalcemia type 1
,
Autosomal dominant hypocalcemia
Centrum Menselijke Erfelijkheid - KUL
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