{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:46:51Z","timestamp":1787014011678,"version":"build-2736575974"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,3,5]],"date-time":"2021-03-05T00:00:00Z","timestamp":1614902400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004919","name":"King Abdulaziz City for Science and Technology","doi-asserted-by":"publisher","award":["11\u2010BIO2221\u201020"],"award-info":[{"award-number":["11\u2010BIO2221\u201020"]}],"id":[{"id":"10.13039\/501100004919","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The dysfunction of microtubules (\u03b1\/\u03b2\u2010tubulin polymers) underlies a wide range of nervous system genetic abnormalities. Defects in TBCD\n                    <jats:italic>,<\/jats:italic>\n                    a tubulin\u2010folding cofactor, cause diseases highlighted with early\u2010onset encephalopathy with or without neurodegeneration, intellectual disability, seizures, microcephaly and tetraparaperesis. Utilizing various molecular methods, we describe nine patients from four unrelated families with two novel exon 18 variants in\n                    <jats:italic>TBCD<\/jats:italic>\n                    exhibiting the typical neurological phenotype of the disease. Interestingly, all the investigated patients had previously unreported hematological findings in the form of neutropenia and mild degree of anemia and thrombocytopenia. In addition to delineating the neurological phenotype in several patients with\n                    <jats:italic>TBCD<\/jats:italic>\n                    variants, our study stresses on the new association of neutropenia, in particular, with the disease.\n                  <\/jats:p>","DOI":"10.1111\/cge.13932","type":"journal-article","created":{"date-parts":[[2021,1,28]],"date-time":"2021-01-28T15:30:29Z","timestamp":1611847829000},"page":"724-731","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Hematological findings associated with tubulin\u2010folding cofactors D\u2010related encephalopathy: Expanding the phenotype"],"prefix":"10.1111","volume":"99","author":[{"given":"Albandary","family":"Al\u2010Bakheet","sequence":"first","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center  Riyadh Saudi 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