Next-generation sequencing for the diagnosis of patients with congenital multiple anomalies and / or intellectual disabilities.

Kenichi Suga,Issei Imoto,Hiromichi Ito,Takuya Naruto,Aya Goji,Keita Osumi,Narumi Tokaji,Yukako Homma,Akemi Ono, Yuko Ichihara,Miki Shono,Tatsuo Mori,Maki Urushihara,Ryuji Nakagawa,Yasunobu Hayabuchi,Shoji Kagami

The journal of medical investigation : JMI（2020）

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摘要

NGS-based targeted panel sequencing seems to be an effective testing strategy for diagnosis of patients with MCA/ID. J. Med. Invest. 67 : 246-249, August, 2020.

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关键词

intellectual disability,multiple congenital anomalies,next-generation sequencing,targeted panel sequencing

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