Inoue Y   Sakamoto Y   Sugimoto M   Inagaki H   Boda H   Miyata M   Kato H   Kurahashi H   Okumoto T   
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 15347 2018年1月 [査読有り]
Cytogenetic and Genome Research 153(1) 1-9 2018年1月 [査読有り]
Chromosomal insertions are rare structural rearrangements, and the molecular mechanisms underlying their origin are unknown. In this study, we used whole genome sequencing to analyze breakpoints and junction sequences in 4 patients with chromosoma...
JOURNAL OF HUMAN GENETICS 62(9) 851-855 2017年9月 [査読有り]
Adams-Oliver syndrome (AOS, OMIM; 100300) is a rare genetic disease characterized by aplasia cutis congenita, terminal transverse limb defects and cutis marmorata with vascular anomalies such as congenital heart defects. The etiology of this syndr...