Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation

Uehara, T; Ishige, T; Hattori, S; Yoshihashi, H; Funato, M; Yamaguchi, Y; Takenouchi, T; Kosaki, K

Kosaki, K (reprint author), Keio Univ, Sch Med, Ctr Med Genet, Shinjuku Ku, 35 Shinanomachi, Tokyo 1608582, Japan.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018; 176 (6): 1335

Abstract

Somatic truncating variants of the WAC gene have been observed in patients with hematologic malignancies. Furthermore, de novo heterozygous constituti......

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