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Exome sequencing identified a novel homozygous\n                    <jats:italic>COL6A1<\/jats:italic>\n                    variant (c.2821C&gt;T), classified as a variant of uncertain significance. The distinct phenotype strongly supports Ullrich congenital muscular dystrophy, expanding the gene's mutational spectrum in consanguineous populations.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.73765","type":"journal-article","created":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T09:45:16Z","timestamp":1792230316000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Unclassified\n                    <scp>COL6A1<\/scp>\n                    Variant in a Child With Congenital Hypotonia: A Case Report"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-4098-5058","authenticated-orcid":false,"given":"Khadeeja","family":"Nofal","sequence":"first","affiliation":[{"name":"College of Medicine and Health Sciences Palestine Polytechnic University  Hebron Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-8918-0540","authenticated-orcid":false,"given":"Hamza M. 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