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Article

Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes.

The journal of gene medicine - 1 Oct 2023

Khan Shazia, Umair Muhammad, Abbas Safdar, Ali Uroba, Zaman Gohar, Ansar Muhammad, Wang Rongrong, Zhang Xue, Houlden Henry, Harlalka Gaurav V, Gul Asma

Abstract excerpt

BACKGROUND: Population diversity is important and rare disease isolates can frequently reveal novel homozygous or biallelic mutations that lead to expanded clinical heterogeneity, with diverse clinical presentations. METHODS: The present study describes two consanguineous families with a total of seven affected individuals suffering from a clinically similar severe syndromic neurological disorder, with abnormal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37178061
DOI: 10.1002/jgm.3513

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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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