Article
Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.
American journal of medical genetics. Part A - 1 Aug 2016
Nair Pratibha, Hamzeh Abdul Rezzak, Mohamed Madiha, Saif Fatima, Tawfiq Nafisa, El Halik Majdi, Al-Ali Mahmoud Taleb, Bastaki Fatma
Abstract excerpt
Microcephaly is a rare neurological condition, both in isolation and when it occurs as part of a syndrome. One of the syndromic forms of microcephaly is microcephaly, seizures and developmental delay (MCSZ) (OMIM #613402), a rare autosomal recessive neurodevelopmental disorder with a range of phenotypic severity, and known to be caused by mutations in the polynucleotide kinase 3' phosphatase (PNKP) gene. The PNK...
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