Clinical and genetic characteristics of RAD50 deficiency (IMAGE)

Tokyo Medical and Dental University

Clinical and genetic characteristics of RAD50 deficiency

Caption

Table summarizes the characteristics of our patient and the previously reported patients with RAD50 deficiency. The main clinical manifestations include growth retardation (4/4), microcephaly (4/4), fetal growth restriction (3/3) and skin manifestation (3/4). On the other hand, no patient developed ataxia or malignancy.

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Department of Child Health and Development, TMDU

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