Severe infantile male encephalopathy is a result of early post-zygotic WDR45 somatic mutation.
Department of Pediatrics B, Genetic Institute, Afula, Israel.|Genetic Institute, Afula, Israel.
R
R
Spiegel
Department of Pediatrics B, Genetic Institute, Afula, Israel.|Rappaport School of Medicine, Technion, Haifa, Israel.
S
S
Shalev
GGA Laboratories, Kazrin, Israel.|Tel-Hai College, Tel-Hai, Israel.
D
D
Bercovich
GGA Laboratories, Kazrin, Israel.
D
D
Rabinovich
Genetic Institute, Afula, Israel.
M
M
Khayat
Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
A
A
Shaag
Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
O
O
Elpeleg
D001927:Brain Diseases / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D015053:Zygote
D002352:Carrier Proteins; C578284:WDR45 protein, human