{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:44:28Z","timestamp":1790419468192,"version":"4.1.0"},"reference-count":23,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:p>Mucolipidosis-III\u03b3 (ML-III\u03b3) is a recessively inherited slowly progressive skeletal dysplasia caused by mutations in <jats:italic toggle=\"yes\">GNPTG<\/jats:italic>. We report the genetic and clinical findings in the largest cohort with ML-III\u03b3 so far: 18 affected individuals from 12 families including 12 patients from India, five from Turkey, and one from the USA. With consanguinity confirmed in eight of 12 families, molecular characterization showed that all affected patients had homozygous pathogenic <jats:italic toggle=\"yes\">GNPTG<\/jats:italic> genotypes, underscoring the rarity of the disorder. Unlike ML-III\u03b1\u03b2, which present with a broader spectrum of severity, the ML-III \u03b3 phenotype is milder, with onset in early school age, but nonetheless thus far considered phenotypically not differentiable from ML-III\u03b1\u03b2. Evaluation of this cohort has yielded phenotypic findings including hypertrophy of the forearms and restricted supination as clues for ML-III\u03b3, facilitating an earlier correct choice of genotype screening. Early identification of this disorder may help in offering a timely intervention for the relief of carpal tunnel syndrome, monitoring and surgery for cardiac valve involvement, and evaluation of the need for joint replacement. As this condition may be confused with rheumatoid arthritis, confirmation of diagnosis will prevent inappropriate use of immunosuppressants and disease-modifying agents.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000249","type":"journal-article","created":{"date-parts":[[2018,11,30]],"date-time":"2018-11-30T20:20:58Z","timestamp":1543609258000},"page":"7-16","source":"Crossref","is-referenced-by-count":13,"title":["Does the clinical phenotype of mucolipidosis-III\u03b3 differ from its \u03b1\u03b2 counterpart?: supporting facts in a cohort of 18 patients"],"prefix":"10.1097","volume":"28","author":[{"given":"Sheela","family":"Nampoothiri","sequence":"first","affiliation":[{"name":"Pediatric Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nursel H.","family":"Elcioglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, Marmara University Faculty of Medicine, 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