160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndrome

Title
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndrome
Authors
Keywords
-
Journal
European Journal of Medical Genetics
Volume 56, Issue 12, Pages 689-694
Publisher
Elsevier BV
Online
2013-10-11
DOI
10.1016/j.ejmg.2013.09.014

Ask authors/readers for more resources

Find Funding. Review Successful Grants.

Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.

Explore

Discover Peeref hubs

Discuss science. Find collaborators. Network.

Join a conversation