Concepedia

Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations

Young Bae Sohn, Cha Gon Lee, Jung Min Ko, Jung-Ah Yang, Jun-No Yun, Eun‐Jung Jung, Hyun‐Seok Jin, Sang‐Jin Park, Seon Yong Jeong

Journal of Human Genetics · 2012 · 49 citations · 20 references

DOI

Concepts

References

20

RING fingers mediate ubiquitin-conjugating enzyme (E2)-dependent ubiquitination

Kevin L. Lorick, Jane P. Jensen, Shengyun Fang et al. · Proceedings of the National Academy of Sciences · 1999 · 1.2K citations

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Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki, Kiyoshi Imaizumi, Naoki Harada et al. · Nature Genetics · 2002 · 656 citations

, , +3

2007 Korean National Growth Charts: review of developmental process and an outlook

Jin Soo Moon, Soon Young Lee, Chung Mo Nam et al. · Korean Journal of Pediatrics · 2008 · 464 citations · Full text

, , +17

Cerebral Gigantism in Childhood

Juan F. Sotos, Philip R. Dodge, Donald M. Muirhead et al. · New England Journal of Medicine · 1964 · 406 citations

, , +12

NSD1 is essential for early post‐implantation development and has a catalytically active SET domain

Geetha Vani Rayasam · The EMBO Journal · 2003 · 341 citations · Full text

, , +6