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genitopatellar syndrome
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KAT6B
Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome
The KAT6B-related disorders Genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
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KAT6B
Somatic tumors
AML, leiomyoma
Tumor types germline
Cancer Syndrom
Translocation partner
CREBBP, KANSL1
Name
K(lysine) acetyltransferase 6B
Chromosome banding
10q22.2
Cancer molecular gen.
Dom
Mutation type
T
Other syndrome disease
Genitopatellar syndrome, Say-Barber-Biesecker/Young-Simpson syndrome
Definition
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