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

Media type: E-Book; Special Print

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

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

Published: New York, NY [u.a.]: Wiley, 2019

Extent: 1 Online-Ressource (14 Seiten); Illustrationen

Language: English

DOI: 10.1002/humu.23694

Identifier:

Keywords: Endosom ; Speicherkrankheit

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Footnote:

Access State: Open Access

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