Microcephalic primordial dwarfism in an Emirati patient withPNKPmutation
Author:
Affiliation:
1. Centre for Arab Genomic Studies; Dubai UAE
2. Pediatric Department; Latifa Hospital, Dubai Health Authority; Dubai UAE
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference18 articles.
1. Congenital microcephaly;Alcantara;Am J Med Genet C Semin Med Genet,2014
2. Primordial dwarfism: An update;Alkuraya;Curr Opin Endocrinol Diabetes Obes,2015
3. The molecular architecture of the mammalian DNA repair enzyme, polynucleotide kinase;Bernstein;Mol Cell,2005
4. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4;Bras;Am J Hum Genet,2015
5. I-Mutant2.0: Predicting stability changes upon mutation from the protein sequence or structure;Capriotti;Nucl Acids Res,2005
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1. A Novel c.968C > T homozygous Mutation in the Polynucleotide Kinase 3′ − Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay;Journal of Pediatric Genetics;2020-05-12
2. Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay;Fetal and Pediatric Pathology;2019-11-09
3. From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations;American Journal of Medical Genetics Part A;2019-08-22
4. Ataxia with Oculomotor Apraxia Type 4 with PNKP Common “Portuguese” and Novel Mutations in Two Belarusian Families;Journal of Pediatric Genetics;2019-03-27
5. Multi affected pedigree with congenital microcephaly: WES revealed PNKP gene mutation;Brain and Development;2019-02
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