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Paper Details

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
Hum Mutat
21
2019
Joubert syndrome, Leu536Phefs, PIBF1, PPP1R21, PPP1R21 alleles, PPP1R21 loss of function variants, c., c.1607dupT, c.2063delA, endosome, facial dysmorphism, fibroblasts, hypotonia, loss of white matter, neurodevelopmental delay, neurodevelopmental syndrome, neurodevelopmental syndromes, patient, rare inherited diseases, storage diseases, thinning of the corpus callosum, transferrin
Author NameAffiliation
Lihadh Al-GazaliCollege of Medicine and Health Sciences, United Arab Emirates University
Zornitza StarkVictorian Clinical Genetics Services, Murdoch Children's Research Institute
Zornitza StarkUniversity of Melbourne
Zornitza Stark
Federico SantoniUniversity of Geneva Medical Faculty
Federico SantoniLausanne University Hospital
Pengfei LiuBaylor College of Medicine
Pengfei LiuBaylor College of Medicine
Stylianos E AntonarakisUniversity of Geneva Medical Faculty
Yaping YangBaylor College of Medicine
Yaping YangBaylor College of Medicine
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