{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T05:14:56Z","timestamp":1790313296038,"version":"4.1.0"},"reference-count":41,"publisher":"FapUNIFESP (SciELO)","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Bras Endocrinol Metab"],"published-print":{"date-parts":[[2011,11]]},"abstract":"<jats:p>Aproximadamente 10% das crian\u00e7as nascidas pequenas para a idade gestacional (PIGs) n\u00e3o apresentam recupera\u00e7\u00e3o espont\u00e2nea do crescimento. As causas desse d\u00e9ficit de crescimento pr\u00e9-natal e sua manuten\u00e7\u00e3o ap\u00f3s o nascimento ainda n\u00e3o s\u00e3o completamente conhecidas na maioria dos casos. Nos \u00faltimos oito anos, diversas muta\u00e7\u00f5es inativadoras e dele\u00e7\u00f5es do gene IGF1R em heterozigose foram relatadas, indicando o papel de defeitos no eixo IGFs\/IGF1R como causa do d\u00e9ficit de crescimento. Postula-se que pelo menos 2,5% das crian\u00e7as nascidas PIGs possam apresentar defeitos no gene IGF1R. O quadro cl\u00ednico desses pacientes apresenta grande variabilidade quanto \u00e0 gravidade do retardo de crescimento e aos par\u00e2metros hormonais. Nos casos mais evidentes, os pacientes apresentam microcefalia, d\u00e9ficit cognitivo leve e valores elevados de IGF-1, associados \u00e0 baixa estatura de in\u00edcio pr\u00e9-natal. Esta revis\u00e3o abordar\u00e1 os aspectos cl\u00ednicos, moleculares e do tratamento da baixa estatura com hrGH de crian\u00e7as com muta\u00e7\u00f5es no IGF1R.<\/jats:p>","DOI":"10.1590\/s0004-27302011000800007","type":"journal-article","created":{"date-parts":[[2012,1,4]],"date-time":"2012-01-04T07:55:23Z","timestamp":1325663723000},"page":"541-549","source":"Crossref","is-referenced-by-count":7,"title":["Muta\u00e7\u00f5es no gene do receptor do fator de crescimento insulina-s\u00edmile 1 (IGF1R) como causa de retardo do crescimento pr\u00e9- e p\u00f3s-natal"],"prefix":"10.1590","volume":"55","author":[{"given":"Andr\u00e9a de Castro","family":"Leal","sequence":"first","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Pinheiro Machado","family":"Canton","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luciana Ribeiro","family":"Montenegro","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00e9bora Cabral","family":"Coutinho","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivo Jorge Prado","family":"Arnhold","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander Augusto de Lima","family":"Jorge","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"issue":"2","key":"ref1","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1203\/00006450-199508000-00022","article-title":"Children 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