Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Atteeq U. Rehman, Maryam Najafi, Marios Kambouris, Lihadh Al-Gazali, Periklis Makrythanasis, Abolfazl Rad, Reza Maroofian, Anna Rajab, Zornitza Stark, Jill V. Hunter, Zeineb Bakey, Mari J. Tokita, Weimin He, Francesco Vetrini, Andrea Petersen, Federico A. Santoni, Hanan Hamamy, Kaman Wu, Fatma Al-Jasmi, Martin HelmstädterSebastian J. Arnold, Fan Xia, Christopher Richmond, Pengfei Liu, Ehsan Ghayoor Karimiani, Gholam Reza Karami Madani, Sebastian Lunke, Hatem El-Shanti, Christine M. Eng, Stylianos E. Antonarakis, Jozef Hertecant, Magdalena Walkiewicz, Yaping Yang, Miriam Schmidts

Research output: Contribution to journal › Article › peer-review

19 Citations (Scopus)

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Medicine & Life Sciences