Naohiro Kurotaki

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats (2005)

Kurotaki, Naohiro, Stankiewicz, Pawel, Wakui, Keiko, Niikawa, Norio, Lupski, James R.

Sotos syndrome (Sos) is an overgrowth disorder also characterized clinically by mental retardation, specific craniofacial features and advanced bone age. As NSD1 haploinsufficiency was determined in...

Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome

Miyake, Noriko, Kurotaki, Naohiro, Sugawara, Hirobumi, Shimokawa, Osamu, Harada, Naoki, Kondoh, Tatsuro, ...

Sotos syndrome (SoS) is characterized by pre- and postnatal overgrowth with advanced bone age; a dysmorphic face with macrocephaly and pointed chin; large hands and feet; mental retardation; and...