Severe infantile male encephalopathy is a result of early post-zygotic WDR45 somatic mutation

Clin Genet. 2016 Dec;90(6):560-562. doi: 10.1111/cge.12849. Epub 2016 Sep 29.

Authors

R Spiegel^{1

2}, S Shalev^{1

3}, D Bercovich^{4

5}, D Rabinovich⁴, M Khayat², A Shaag⁶, O Elpeleg⁶

Affiliations

¹ Department of Pediatrics B, Genetic Institute, Afula, Israel.
² Genetic Institute, Afula, Israel.
³ Rappaport School of Medicine, Technion, Haifa, Israel.
⁴ GGA Laboratories, Kazrin, Israel.
⁵ Tel-Hai College, Tel-Hai, Israel.
⁶ Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

PMID: 27681470
DOI: 10.1111/cge.12849

No abstract available

Publication types

Letter

MeSH terms

Brain Diseases / genetics*
Carrier Proteins / genetics*
Humans
Male
Mutation*
Zygote

Substances

Carrier Proteins
WDR45 protein, human