2003
DOI: 10.4067/s0034-98872003001200007
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Mutaciones del gen del receptor 3 del Factor de Crecimiento de Fibroblasto (FGFR3) en pacientes chilenos con talla baja idiopática, hipocondroplasia y acondroplasia

Abstract: Mutations in the Fibroblast Growth FactorReceptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia Background: Achondroplasia and hypochondroplasia are skeletal dysplasias of autosomal dominant inheritance that represent different degrees of severity of the same pathological entity. Both dysplasias are caused by mutations in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene. In achondroplasia more than 95% of the cases studied to date carry the same muta… Show more

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Cited by 5 publications
(7 citation statements)
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References 24 publications
(23 reference statements)
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“…Regarding genetic studies, the Laboratory of Molecular Biology and Cytogenetics at Pontificia Universidad Católica performs analyses for different genetic conditions, including variants associated with Ach, Leri‐Weill dyschondrosteosis, and TD (Mancilla et al, 2003; Poggi et al, 2015). Sequencing of selected exons of the FGFR3 gene and MLPA deletion/duplication analysis and sequencing of the SHOX gene are currently performed.…”
Section: Sd In Chilementioning
confidence: 99%
“…Regarding genetic studies, the Laboratory of Molecular Biology and Cytogenetics at Pontificia Universidad Católica performs analyses for different genetic conditions, including variants associated with Ach, Leri‐Weill dyschondrosteosis, and TD (Mancilla et al, 2003; Poggi et al, 2015). Sequencing of selected exons of the FGFR3 gene and MLPA deletion/duplication analysis and sequencing of the SHOX gene are currently performed.…”
Section: Sd In Chilementioning
confidence: 99%
“…Tables 1 and 2 summarize the key characteristics from those studies that reported at least one patient-important or economic outcome. Regarding study design, four were case series [ 26 , 34 , 35 , 73 ], 24 cross-sectional studies [ 5 , 6 , 24 , 29 , 36 – 38 , 40 , 45 , 48 , 50 54 , 56 , 58 , 60 , 61 , 66 , 69 , 70 , 72 , 75 ], and 25 case reports [ 27 , 28 , 30 – 33 , 39 , 41 – 44 , 46 , 47 , 49 , 55 , 57 , 59 , 62 – 65 , 67 , 68 , 71 , 74 ].…”
Section: Resultsmentioning
confidence: 99%
“…Twenty-four of the included studies were conducted in Brazil [ 5 , 24 , 26 – 34 , 36 , 38 – 40 , 45 , 49 , 57 , 63 , 66 , 67 , 69 , 74 , 75 ], nine in Argentina [ 44 , 50 54 , 56 , 64 , 73 ], five in Colombia [ 42 , 48 , 58 , 68 , 71 ], four in Mexico [ 35 , 37 , 41 , 59 ], three in Chile [ 46 , 47 , 61 ], three in Cuba [ 43 , 60 , 65 ], one each in Dominican Republic [ 55 ], in Paraguay [ 62 ], in Venezuela [ 72 ], and in Puerto Rico [ 70 ]. Only one article [ 6 ] was a multicenter cross-sectional study, which involved nine countries (i.e., Argentina, Bolivia, Brazil, Chile, Colombia, Ecuador, Paraguay, Uruguay, and Venezuela) [ 6 ].…”
Section: Resultsmentioning
confidence: 99%
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“…[9][10][11] El trastorno se hereda con carácter autosómico dominante y todos los casos se deben a mutaciones genéticas de novo. 7,[12][13][14] La DT está asociada con otras alteraciones como hidrocefalia (en los casos de cráneo en trébol), riñón en herradura, defecto septal atrial, defecto de la válvula tricúspide, ano imperforado y sinostosis radiocubital. [4][5][6][7][8][9] Los hallazgos ecográficos dependen del tipo.…”
Section: Discussionunclassified