[3P-0804] A deletion mutation of the POLD1 gene in a Japanese woman with congenital partial lipodystrophy identified by whole-exome sequencing analysis.

〇Kumiko Yanagi¹, Haruka Sasaki², Kumiko Ohkubo³, Manami Iso¹, Yoko Kuroki¹, Keiko Hayashi¹, Hiroko Ogata⁴, Kazuhiko Nakabayashi⁴, Kohji Okamura⁵, Kenichiro Hata⁴, Yoichi Matsubara⁶, Tadashi Kaname¹ (1.Dept. of Genome Med., NCCHD, 2.Counseling and Health Center, Kyushu Univ., 3.Dept. of Laboratory Med., Fukuoka Univ.Sch.Med., 4.Dept. of Maternal Fetal Biology, NCCHD, 5.Dept. of Systems Biomed., NCCHD, 6.NCCHD)

POLD1, Congenital anomaly, exome