A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate

Nature·May 18

This story is reported by Nature. Read what other outlets are saying below, then open the original report for full details.

Full coverage

1

Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary

Wiley Online Library·Mar 19

2

Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly

Frontiers·Feb 4

3

Identification of cancer-associated missense mutations in hace1 that impair cell growth control and Rac1 ubiquitylation

Nature·Mar 20

4

E3 Ubiquitin Ligases in Neurological Diseases: Focus on Gigaxonin and Autophagy

Frontiers·Oct 22

5

Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis

Nature·Nov 23

6

Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A

Nature·May 2