Two novel germline KRAS mutations: expanding the molecular and clinical phenotype
Two novel germline KRAS mutations: expanding the molecular and clinical phenotype
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DOI：
10.1111/j.1399-0004.2011.01754.x
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发表时间：
2012-06-01
影响因子：
3.5
通讯作者：
Zenker, M.
中科院分区：
文献类型：
--
作者：
Stark, Z.;Gillessen-Kaesbach, G.;Zenker, M.
Stark Z、Gillessen-Kaesbach G、Ryan MM、Cirstea IC、Gremer L、Ahmadian MR、Savarirayan R、Zenker M。两种新型种系 KRAS 突变：扩大分子和临床表型。努南综合征和心面皮肤综合征的特点是典型的畸形特征、心脏缺陷、身材矮小、多种外胚层异常和智力障碍。两者都属于 Ras/丝裂原激活蛋白激酶通路疾病组，临床特征与其他相关疾病重叠，特别是 LEOPARD 和 Costello 综合征。 KRAS 突变约占已报道的 Noonan 和
Stark Z, Gillessen-Kaesbach G, Ryan MM, Cirstea IC, Gremer L, Ahmadian MR, Savarirayan R, Zenker M. Two novel germline KRAS mutations: expanding the molecular and clinical phenotype. Noonan and Cardio-facio-cutaneous (CFC) syndromes are characterized by typical dysmorphic features, cardiac defects, short stature, variable ectodermal anomalies, and intellectual disability. Both belong to the Ras/mitogen-activated protein kinase pathway group of disorders and clinical features overlap other related conditions, notably LEOPARD and Costello syndromes. KRAS mutations account for about 2% of reported Noonan and