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

Rehman, Atteeq U; Najafi, Maryam; Kambouris, Marios; Gazali, Lihadh Al; Makrythanasis, Periklis; Rad, Abolfazl; Maroofian, Reza; Rajab, Anna; Stark, Zornitza; Hunter, Jill V; Bakey, Zeineb; Tokita, Mari J; He, Weimin; Vetrini, Francesco; Petersen, Andrea; Santoni, Federico A; Hamamy, Hanan; Wu, Kaman; Jasmi, Fatma Al; Helmstädter, Martin; Arnold, Sebastian J; Xia, Fan; Richmond, Christopher; Liu, Pengfei; Karimiani, Ehsan Ghayoor; Madani, GholamReza Karami; Lunke, Sebastian; El-Shanti, Hatem; Eng, Christine M; Antonarakis, Stylianos E; Hertecant, Jozef; Walkiewicz, Magdalena; Yang, Yaping; Schmidts, Miriam.
Hum Mutat; 2018 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-30520571

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