Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities

Mamiko Yamada, Yuichi Shiraishi, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Chihiro Abe-Hatano, Kenji Kurosawa, Kenjiro Kosaki

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