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Cowden syndrome, type 1
Gene: PTEN
Cowden syndrome, type 5
Gene: PIK3CA
Congenital dyserythropoietic anemia, type 4
Gene: KLF1
Congenital dyserythropoietic anemia, type 3
Gene: KIF23
Congenital dyserythropoietic anemia, type 1
Gene: CDAN1
Congenital dyserythropoietic anemia, type 2
Gene: SEC23B
Carney-Stratakis syndrome
Gene: SDHC
Carney-Stratakis syndrome
Gene: SDHD
Congenital dyserythropoietic anemia, type 1
Gene: C15orf41
Basal cell nevus syndrome
Gene: PTCH2
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