{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:03:34Z","timestamp":1791295414641,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,2,17]],"date-time":"2017-02-17T00:00:00Z","timestamp":1487289600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001807","name":"S\u00e3o Paulo Research Foundation","doi-asserted-by":"publisher","award":["2011\/17299\u20103"],"award-info":[{"award-number":["2011\/17299\u20103"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report on a 12\u2010year\u2010old Brazilian boy with the p.Pro49Arg mutation in<jats:italic>PPP1CB<\/jats:italic>, a novel gene associated with RASopathies. This is the fifth individual described, and the fourth presenting the same variant, suggesting a mutational hotspot. Phenotypically, he also showed the same hair pattern\u2014sparse, thin, and with slow growing\u2014, similar to the typical ectodermal finding observed in Noonan syndrome\u2010like disorder with loose anagen hair. Additionally, he presented craniosynostosis, a rare clinical finding in RASopathies. This report gives further support that this novel RASopathy\u2014PPP1CB\u2010related Noonan syndrome with loose anagen hair\u2014shares great similarity to Noonan syndrome\u2010like disorder with loose anagen hair, and expands the phenotypic spectrum by adding the cranial vault abnormality. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38070","type":"journal-article","created":{"date-parts":[[2017,2,17]],"date-time":"2017-02-17T13:51:08Z","timestamp":1487339468000},"page":"824-828","source":"Crossref","is-referenced-by-count":40,"title":["The recurrent<i>PPP1CB<\/i>mutation p.Pro49Arg in an additional Noonan\u2010like syndrome individual: Broadening the clinical phenotype"],"prefix":"10.1002","volume":"173","author":[{"given":"D\u00e9bora","family":"Bertola","sequence":"first","affiliation":[{"name":"Unidade de Gen\u00e9tica Cl\u00ednica Instituto da Crian\u00e7a do Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo S\u00e3o Paulo Brazil"},{"name":"Instituto de Bioci\u00eancias da Universidade de S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guilherme","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Unidade de Gen\u00e9tica Cl\u00ednica Instituto da Crian\u00e7a do Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo S\u00e3o Paulo Brazil"},{"name":"Instituto de Bioci\u00eancias da Universidade de S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Buscarilli","sequence":"additional","affiliation":[{"name":"Unidade de Gen\u00e9tica Cl\u00ednica Instituto da Crian\u00e7a do Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo S\u00e3o Paulo 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