{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T22:39:17Z","timestamp":1710801557239},"reference-count":29,"publisher":"FapUNIFESP (SciELO)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Bras Endocrinol Metab"],"published-print":{"date-parts":[[2007,4]]},"abstract":"<jats:p>INTRODU\u00c7\u00c3O: Aproximadamente 50% dos pacientes com s\u00edndrome de Noonan (SN) apresentam muta\u00e7\u00f5es em heterozigose no gene PTPN11. OBJETIVO: Avaliar a freq\u00fc\u00eancia de muta\u00e7\u00f5es no PTPN11 em pacientes com SN e analisar a correla\u00e7\u00e3o fen\u00f3tipo-gen\u00f3tipo. PACIENTES: 33 pacientes com SN. M\u00c9TODO: Extra\u00e7\u00e3o de DNA de leuc\u00f3citos perif\u00e9ricos e seq\u00fcenciamento dos 15 exons do PTPN11. RESULTADOS: Nove diferentes muta\u00e7\u00f5es missense no PTPN11, incluindo a muta\u00e7\u00e3o P491H, ainda n\u00e3o descrita, foram encontradas em 16 dos 33 pacientes. As caracter\u00edsticas cl\u00ednicas mais freq\u00fcentes dos pacientes com SN foram: pavilh\u00e3o auricular com rota\u00e7\u00e3o incompleta e espessamento da helix (85%), baixa estatura (79%), prega cervical (77%) e criptorquidismo nos meninos (60%). O Z da altura foi de -2,7 \u00b1 1,2 e o do IMC foi de -1 \u00b1 1,4. Os pacientes com muta\u00e7\u00e3o no PTPN11 apresentaram maior freq\u00fc\u00eancia de estenose pulmonar do que os pacientes sem muta\u00e7\u00e3o (38% vs. 6%, p&lt; 0,05). Pacientes com ou sem muta\u00e7\u00e3o no PTPN11 n\u00e3o diferiram em rela\u00e7\u00e3o \u00e0 m\u00e9dia do Z da altura, Z do IMC, freq\u00fc\u00eancia de altera\u00e7\u00f5es tor\u00e1cicas, caracter\u00edsticas faciais, criptorquidia, retardo mental, dificuldade de aprendizado, pico de GH ao teste de est\u00edmulo e Z de IGF-1 ou IGFBP-3. CONCLUS\u00c3O: Identificamos muta\u00e7\u00f5es no PTPN11 em 48,5% dos pacientes com SN, os quais apresentaram maior freq\u00fc\u00eancia de estenose pulmonar.<\/jats:p>","DOI":"10.1590\/s0004-27302007000300014","type":"journal-article","created":{"date-parts":[[2007,11,15]],"date-time":"2007-11-15T22:15:49Z","timestamp":1195164949000},"page":"450-456","source":"Crossref","is-referenced-by-count":4,"title":["Variabilidade do fen\u00f3tipo de pacientes com s\u00edndrome de Noonan com e sem muta\u00e7\u00f5es no gene PTPN11"],"prefix":"10.1590","volume":"51","author":[{"given":"Lize V.","family":"Ferreira","sequence":"first","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia A.L.","family":"Souza","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luciana R.","family":"Montenegro","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivo J.P.","family":"Arnhold","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Titania","family":"Pasqualini","sequence":"additional","affiliation":[{"name":"Hospital Italiano de Buenos Aires"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Jorge","family":"Heinrich","sequence":"additional","affiliation":[{"name":"Hospital de Ni\u00f1os Ricardo Gutierrez,  Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Claudia","family":"Keselman","sequence":"additional","affiliation":[{"name":"Hospital de Ni\u00f1os Ricardo Gutierrez,  Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berenice B.","family":"Mendon\u00e7a","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander A.L.","family":"Jorge","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","first-page":"48","article-title":"The Ullrich-Noonan syndrome (Turner phenotype)","volume":"127","author":"Nora JJ","year":"1974","journal-title":"Am J Dis Child","ISSN":"http:\/\/id.crossref.org\/issn\/0002-922X","issn-type":"print"},{"key":"ref2","series-title":"Smith\u2019s Recognizable Patterns of Human Malformation","author":"Jones KL","year":"1997","edition":"5th"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1007\/BF00441408","article-title":"Noonan syndrome: growth and clinical manifestations in 144 cases","volume":"148","author":"Ranke 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