An extremely severe phenotype attributed to WDR81 nonsense mutations

Ann Neurol. 2017 Oct;82(4):650-651. doi: 10.1002/ana.25058.

Authors

Gerarda Cappuccio^{1

2}, Michele Pinelli^{1

2}, Annalaura Torella^{2

3}, Giuseppina Vitiello¹, Alessandra D'Amico⁴, Marianna Alagia^{1

2}, Ennio Del Giudice¹, Vincenzo Nigro^{2

3}; TUDP⁵; Nicola Brunetti-Pierri^{1

2}

Affiliations

¹ Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
² Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
³ Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, University of Campania 'Luigi Vanvitelli', Naples, Italy.
⁴ Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy.
⁵ Telethon Undiagnosed Diseases Program.

PMID: 28972664
DOI: 10.1002/ana.25058

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't
Comment

MeSH terms

Codon, Nonsense*
Humans
Hydrocephalus*
Nerve Tissue Proteins
Phenotype

Substances

Codon, Nonsense
Nerve Tissue Proteins
WDR81 protein, human