Polydactyly: how many disorders and how many genes? 2010 update.
Polydactyly: how many disorders and how many genes? 2010 update.
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DOI：
10.1002/dvdy.22609
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发表时间：
2011-05
影响因子：
2.5
通讯作者：
Biesecker, Leslie G.
中科院分区：
文献类型：
--
作者：
Biesecker, Leslie G.
肢体发育在临床上和生物学上都很重要。多指畸形是常见的，是由前后形态异常引起的。包括多指畸形在内的人类疾病是多种多样的。为了促进对肢体发育生物学的理解，对多指畸形患者的突变基因进行编目将是有用的。2002年，我描述了包括多指畸形在内的人类表型。随后，随着临床实体的改进和众多基因的鉴定，出现了许多进展。在这里，我通过表型和突变基因更新了人类多指畸形实体。这项调查显示了表型与重叠的表现，遗传异质性和不同的表型产生的突变在单个基因。在310个临床实体中，80个与99个基因的突变有关。这些结果表明，对肢体模式遗传学的认识正在迅速提高。不久，我们将拥有一个对肢体发育重要的基因的综合工具包，这将导致肢体异常的再生疗法。
Limb development is clinically and biologically important. Polydactyly is common and caused by aberrant anterior-posterior patterning. Human disorders that include polydactyly are diverse. To facilitate an understanding of the biology of limb development, cataloging the genes that are mutated in patients with polydactyly would be useful. In 2002, I characterized human phenotypes that included polydactyly. Subsequently, many advances have occurred with refinement of clinical entities and identification of numerous genes. Here, I update human polydactyly entities by phenotype and mutated gene. This survey demonstrates phenotypes with overlapping manifestations, genetic heterogeneity, and distinct phenotypes generated from mutations in single genes. Among 310 clinical entities, 80 are associated with mutations in 99 genes. These results show that knowledge of limb patterning genetics is improving rapidly. Soon, we will have a comprehensive toolkit of genes important for limb development, which will lead to regenerative therapies for limb anomalies.
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影响因子：
30.8
作者：
Kang, S;Graham, JM;Biesecker, LG
通讯作者：
Biesecker, LG
DOI：
10.1002/ajmg.10779
发表时间：
2002-10-15
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
Biesecker, LG
通讯作者：
Biesecker, LG
影响因子：
8.8
作者：
Robin, NH;Biesecker, LG
通讯作者：
Biesecker, LG
影响因子：
9.8
作者：
Radhakrishna, U;Bornholdt, D;Antonarakis, SE
通讯作者：
Antonarakis, SE
影响因子：
30.8
作者：
Ruiz-Perez, VL;Ide, SE;Goodship, J
通讯作者：
Goodship, J