医学
先证者
家族性腺瘤性息肉病
结直肠癌
入射(几何)
内科学
癌症登记处
基因型
癌症
儿科
遗传学
突变
基因
生物
光学
物理
作者
Marta Garzón‐Benavides,Ángeles Pizarro‐Moreno,Roberto Lozano‐Rodríguez,M. I. Herrero Garrido,Antonio José Hervás Molina,José Luis Márquez Galán,C. Cordero Fernández
标识
DOI:10.4321/s1130-01082010001100006
摘要
The registry has facilitated the genetic diagnosis for all affected families disregard their province of origin. It has also improved the screening of affected relatives and has made it possible to take preventive measures immediately, therefore diminishing the incidence of CRC at diagnosis in registered affected relatives. The correlation between congenital hypertrophy of the retinal pigment epithelium with some mutations is the only phenotypic-genotypic correlation with statistical significance.
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