Total: 1 |
|
PMID (PMCID) | ||
---|---|---|
30392057 |
MIXED_SAMPLE | Infant |
A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family. | ||
Abdulkareem AA, Abulnaja KO, Jan MM, Karim S, Rasool M, Ansari SA, Chaudhary AG, Al-Qahtani MH, Naseer MI. Neurol Sci. 2019;40(2):299-303. |
||
Uncharacteristic affected individuals are often classified as having PEHO-like syndrome, although they may be misdiagnosed as having epileptic encephalopathy, a potential result of early birth. |