RS1355767159 POLE
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Associated Conditions
Intrauterine growth retardation
metaphyseal dysplasia
adrenal hypoplasia congenita
genital anomalies
and immunodeficiency
Colorectal cancer
susceptibility to
12
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Hereditary cancer-predisposing syndrome
POLE-related disorder
Polymerase proofreading-related adenomatous polyposis
Intrauterine growth retardation
metaphyseal dysplasia
adrenal hypoplasia congenita
Other Variants in POLE