Nosology and classification of genetic skeletal disorders: 2010 revision.
Nosology and classification of genetic skeletal disorders: 2010 revision.
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DOI：
10.1002/ajmg.a.33909
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发表时间：
2011-05
影响因子：
2
通讯作者：
Superti-Furga, Andrea
中科院分区：
文献类型：
--
作者：
Warman, Matthew L.;Cormier-Daire, Valerie;Hall, Christine;Krakow, Deborah;Lachman, Ralph;LeMerrer, Martine;Mortier, Geert;Mundlos, Stefan;Nishimura, Gen;Rimoin, David L.;Robertson, Stephen;Savarirayan, Ravi;Sillence, David;Spranger, Juergen;Unger, Sheila;Zabel, Bernhard;Superti-Furga, Andrea
涉及骨骼系统的遗传疾病通过骨骼发育、生长和动态平衡的复杂过程中的干扰而产生，由于其多样性，仍然是诊断的一个挑战。遗传性骨骼疾病的病因学和分类提供了公认的诊断实体的概述，并根据临床和放射学特征以及分子发病机制对它们进行了分组。其目的是向遗传学、儿科学和放射学社区提供一份公认的遗传性骨骼疾病清单，这些清单可以帮助诊断个别病例，描绘新的疾病，并在临床医生和对骨骼生物学感兴趣的科学家之间建立桥梁。在2010年的修订中，纳入了456种疾病，并将其分为40组，这些组由分子、生化和/或放射学标准定义。在这些疾病中，有316种与226个不同基因中的一个或多个基因突变有关，从常见的、反复发生的突变到在单个家庭或个人中发现的“私人”突变。因此，病因学是等待分子澄清的临床定义疾病列表和注释数据库之间的混合体，该数据库记录了由给定基因突变产生的表型谱。病因学应该有助于遗传性骨骼疾病患者的诊断，特别是考虑到新的测序技术预计会带来大量信息；通过提供已建立的病因学实体的概述，描述临床实体和新的疾病；以及科学家寻找涉及骨骼生物学的基因、蛋白质和途径的临床相关性。©2011 Wiley-Liss，Inc.
Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their variety. The Nosology and Classification of Genetic Skeletal Disorders provides an overview of recognized diagnostic entities and groups them by clinical and radiographic features and molecular pathogenesis. The aim is to provide the Genetics, Pediatrics and Radiology community with a list of recognized genetic skeletal disorders that can be of help in the diagnosis of individual cases, in the delineation of novel disorders, and in building bridges between clinicians and scientists interested in skeletal biology. In the 2010 revision, 456 conditions were included and placed in 40 groups defined by molecular, biochemical, and/or radiographic criteria. Of these conditions, 316 were associated with mutations in one or more of 226 different genes, ranging from common, recurrent mutations to “private” found in single families or individuals. Thus, the Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene. The Nosology should be useful for the diagnosis of patients with genetic skeletal diseases, particularly in view of the information flood expected with the novel sequencing technologies; in the delineation of clinical entities and novel disorders, by providing an overview of established nosologic entities; and for scientists looking for the clinical correlates of genes, proteins and pathways involved in skeletal biology. © 2011 Wiley-Liss, Inc.
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影响因子：
2
作者：
Superti-Furga, Andrea;Unger, Sheila
通讯作者：
Unger, Sheila
影响因子：
2.3
作者：
Lachman, RS
通讯作者：
Lachman, RS
影响因子：
2
作者：
Nishimura, G;Hasegawa, T;Yoshimoto, M
通讯作者：
Yoshimoto, M
DOI：
10.2106/00004623-197153050-00012
发表时间：
1971-01-01
影响因子：
5.3
作者：
MCKUSICK, VA;SCOTT, CI
通讯作者：
SCOTT, CI
DOI：
10.1002/ajmg.10828
发表时间：
2002-11-15
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
Hall, CM
通讯作者：
Hall, CM