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Carney-Stratakis syndrome
Gene: SDHB, SDHC, SDHD_MLPA
Basal cell nevus syndrome
Gene: PTCH1_MLPA
BAP1-related tumor predisposition syndrome
Gene: BAP1_MLPA
X-linked ichthyosis
Gene: STS_MLPA
X-linked congenital adrenal hypoplasia
Gene: NR0B1_MLPA
Williams-Beuren syndrome
Gene: 7q11.23 region
Wilson disease
Gene: ATP7B_MLPA
West syndrome
Gene: ARX_MLPA
Von Hippel-Lindau disease
Gene: VHL_MLPA
Von Willebrand disease
Gene: VWF_MLPA
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