RS772684226 POLE
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Associated Conditions
Hereditary cancer-predisposing syndrome
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Intrauterine growth retardation
metaphyseal dysplasia
adrenal hypoplasia congenita
genital anomalies
and immunodeficiency
Colorectal cancer
susceptibility to
12
Hereditary cancer-predisposing syndrome
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Intrauterine growth retardation
metaphyseal dysplasia
adrenal hypoplasia congenita
Other Variants in POLE