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TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia

Yumiko Komatsu1, Toshifumi Suzuki2, Yoshinori Tsurusaki2

  • 1Department of Pediatrics, Kyorin University School of Medicine, 6-20-2, Shinkawa, Mitaka, Tokyo, 181-8611, Japan.

CEN Case Reports
|May 17, 2017
PubMed

Keywords:
Joubert syndromeMolar tooth signRenal hypodysplasiaWhole-exome sequencing

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