Article
Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome.
American journal of medical genetics. Part A - 1 Jul 2023
Kurosaka Hiroshi, Yamamoto Sayuri, Hirasawa Kyoko, Yanagishita Tomoe, Fujioka Kaoru, Yagasaki Hideaki, Nagata Miho, Ishihara Yasuki, Yonei Ayumi, Asano Yoshihiro, Nagata Namiki, Tsujimoto Takayuki, Inubushi Toshihiro, Yamamoto Toshiyuki, Sakai Norio, Yamashiro Takashi
Abstract excerpt
Craniofacial defects are one of the most frequent phenotypes in syndromic diseases. More than 30% of syndromic diseases are associated with craniofacial defects, which are important for the precise diagnosis of systemic diseases. Special AT-rich sequence-binding protein 2 (SATB2)-associated syndrome (SAS) is a rare syndromic disease associated with a wide variety of phenotypes, including intellectual disability...
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