Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.

doi:10.1007/s00438-024-02149-y

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Article

Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.

Molecular genetics and genomics : MGG - 21 May 2024

Afridi Tehseen Ullah Khan, Fatima Ambrin, Satti Humayoon Shafique, Akram Zaineb, Yousafzai Imran Khan, Naeem Wajahat Bin, Fatima Nasreen, Ali Asmat, Iqbal Zafar, Khan Ayaz, Shahzad Muhammad, Liu Chunyu, Toft Mathias, Zhang Feng, Tariq Muhammad, Davis Erica E, Khan Tahir N

Abstract excerpt

Neurodevelopmental disorders (NDDs) are a clinically and genetically heterogeneous group of early-onset pediatric disorders that affect the structure and/or function of the central or peripheral nervous system. Achieving a precise molecular diagnosis for NDDs may be challenging due to the diverse genetic underpinnings and clinical variability. In the current study, we investigated the underlying genetic cause(s)...

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PMID: 38771357
DOI: 10.1007/s00438-024-02149-y

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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