151. An extremely severe phenotype attributed to WDR81 nonsense mutations
- Author
-
Tudp, Annalaura Torella, Alessandra D'Amico, Ennio Del Giudice, Gerarda Cappuccio, Nicola Brunetti-Pierri, Vincenzo Nigro, Michele Pinelli, Marianna Alagia, Giuseppina Vitiello, Cappuccio, Gerarda, Pinelli, Michele, Torella, Annalaura, Vitiello, Giuseppina, D'Amico, Alessandra, Alagia, Marianna, Del Giudice, Ennio, Nigro, Vincenzo, Brunetti-pierri, Nicola, DEL GIUDICE, Ennio, and BRUNETTI PIERRI, Nicola
- Subjects
0301 basic medicine ,Genetics ,media_common.quotation_subject ,Nonsense mutation ,Nonsense ,Nerve Tissue Proteins ,Biology ,medicine.disease ,Phenotype ,Hydrocephalus ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Neurology ,Codon, Nonsense ,Severe phenotype ,medicine ,Humans ,Neurology (clinical) ,030217 neurology & neurosurgery ,media_common - Abstract
no abstract available
- Published
- 2017