A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.

Noriko MiyakeM InabaS MizunoM ShiinaE ImagawaS MiyatakeM NakashimaT MizuguchiA TakataK OgataN Matsumoto

Published in: Clinical genetics (2017)

A novel causative variant (c. 464T>C, p.Leu155Pro) in the heterogeneous nuclear ribonucleoprotein K (HNRNPK) gene.

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