Refining the phenotypic spectrum of <i>PNKP</i> -related microcephaly: a study of 27 new patients

Our results provide 'microlissencephaly' as an emerging distinct phenotype linked to <i>PNKP</i> variants. As such, <i>PNKP</i> variants could be associated with four overlapping subgroups that lie along a unifying phenotypic continuum.

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Publication Details

Journal
Journal of Medical Genetics
Published
2025-12-23
DOI
https://doi.org/10.1136/jmg-2025-111040
Primary Topic
Genomics and Rare Diseases
Type
article
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article

Refining the phenotypic spectrum of PNKP -related microcephaly: a study of 27 new patients

Mohamed Sayed Abdel-Hamid, Maha Zaki, Marian Girgis, Sherif F Abdel-Ghafar et al.
Journal of Medical Genetics
Genomics and Rare Diseases
article

Refining the phenotypic spectrum of PNKP -related microcephaly: a study of 27 new patients

Mohamed Sayed Abdel-Hamid, Maha Zaki, Marian Girgis, Sherif F Abdel-Ghafar, Ghada M H Abdel-Salam
article en

Abstract

Our results provide 'microlissencephaly' as an emerging distinct phenotype linked to <i>PNKP</i> variants. As such, <i>PNKP</i> variants could be associated with four overlapping subgroups that lie along a unifying phenotypic continuum.

Journal of Medical GeneticsVol. 63(4)
Cairo University (EG), National Research Centre (EG)
Quality Education
Openalex Percentile: Top 25%
Genomics and Rare Diseases
DOISourceOpenAlex
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