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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 Helmstaedter,Sebastian J. Arnold,Fan Xia,Christopher Richmond,Pengfei Liu,Ehsan Ghayoor Karimiani,GholamReza Karami Madani,Sebastian Lunke,Hatem El-Shanti,Christine M. Eng,Stylianos E. Antonarakis,Jozef Hertecant,Magdalena Walkiewicz,Yaping Yang,Miriam Schmidts

HUMAN MUTATION（2019）

引用 22|浏览50
关键词
early endosome,endo-lysosome,neurodevelopmental syndrome,storage disease
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