A novel homozygous truncating variant in PPFIBP1 further delineates PPFIBP1-associated neurodevelopmental disorder.

doi:10.1002/jdn.10247

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Article

A novel homozygous truncating variant in PPFIBP1 further delineates PPFIBP1-associated neurodevelopmental disorder.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Apr 2023

Waqas Ahmed, Liaqat Romana, Shaheen Sidrah, Khan Ali Zaman, Mujahid, Habib Alaa Hamed, Binothman Najat, Aljadani Majidah, Zehri Zamrud, Shaheen Shabnam, Alkathiri Afnan, Naz Rubina, Umair Muhammad, Abbas Safdar

Abstract excerpt

Neurodevelopmental disorders (NDDs) are classified as a group of disorders affecting function and development of the brain and having wide clinical variability. Herein, we describe two affected individuals segregating a recessive NDD. The affected individuals exhibited phenotypes such as global developmental delay (GDD), intellectual disability (ID), microcephaly and speech delay. Whole-exome sequencing (WES)...

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PMID: 36527195
DOI: 10.1002/jdn.10247

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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