{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:30Z","timestamp":1786976850405,"version":"build-2736575974"},"reference-count":34,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,9,27]],"date-time":"2020-09-27T00:00:00Z","timestamp":1601164800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Variants in\n                    <jats:italic>PPP1R21<\/jats:italic>\n                    were recently found to be associated with an autosomal recessive intellectual disability syndrome in 9 individuals. Our patient, the oldest among the known subjects affected by\n                    <jats:italic>PPP1R21<\/jats:italic>\n                    \u2010related syndrome, manifested intellectual disability, short stature, congenital ataxia with cerebellar vermis hypoplasia, generalized hypertrichosis, ulcerative keratitis, muscle weakness, progressive coarse appearance, macroglossia with fissured tongue, and deep palmar and plantar creases. We provide an overview of the clinical spectrum and natural history of this newly recognized disorder, arguing the emerging notion that\n                    <jats:italic>PPP1R21<\/jats:italic>\n                    gene mutations could result in endolysosomal functional defects. The oldest patients could display a more severe clinical outcome, due to accumulation of metabolites or damage secondary to an alteration of the autophagy pathway. Follow\u2010up of patients with\n                    <jats:italic>PPP1R21<\/jats:italic>\n                    mutations is recommended for improving the understanding of\n                    <jats:italic>PPP1R21\u2010<\/jats:italic>\n                    related syndromic intellectual disability.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.61889","type":"journal-article","created":{"date-parts":[[2020,9,28]],"date-time":"2020-09-28T01:11:33Z","timestamp":1601255493000},"page":"3014-3022","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["<i>\n                      <scp>PPP1R21<\/scp>\n                      \u2010\n                    <\/i>\n                    related syndromic intellectual disability: Report of an adult patient and 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