Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. (2012)

First Author: Haack TB


No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2012.10.019

PubMed Identifier: 23176820

Publication URI: http://europepmc.org/abstract/MED/23176820

Type: Journal Article/Review

Volume: 91

Parent Publication: American journal of human genetics

Issue: 6

ISSN: 0002-9297