| 概要 |
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF) is a novel autosomal recessive multisystem syndrome. It has been reported that a ZPR1 mutation is associated with GKAF. ZPR1 encodes a regulatory protein involved in cell proliferation and signal transduction.
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| 著者 |
Ito YA, Smith AC, Kernohan KD, Pena IA, Ahmed A, McDonell LM, Beaulieu C, Bulman DE, Smidt A, Sawyer SL, Dyment DA, Boycott KM, Clericuzio CL |
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