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Figure 2 | BMC Medical Genetics

Figure 2

From: A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

Figure 2

Growth charts of CMH812. The patient is a female with severe intrauterine and postnatal growth retardation head circumference (A) [<3rd centile]; weight (B) [<2nd centile], length (C) [<2nd centile], based on CDC growth chart for girls, age 0–20 months. Growth remained poor postnatally and she was briefly started on growth hormone, which was discontinued due to suspicion for a disorder of DNA repair/instability. At age 15 months she was ~5 SD below the mean for weight and length and ~3-4 SD below the mean for head circumference.

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BMC Medical Genetics

ISSN: 1471-2350

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