Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients

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作者
Defu Lin
Huakang Du
Sen Zhao
Bowen Liu
Hongcheng Song
Guannan Wang
Weiping Zhang
Haiyan Liang
Pei Liu
Chao Liu
Wenwen Han
Zhenwu Li
Yang Yang
Shuofan Chen
Lina Zhao
Xiaoxin Li
Zhihong Wu
Ning Sun
Nan Wu
机构
[1] Beijing Children’s Hospital,Department of Urology
[2] Capital Medical University,Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases
[3] National Center for Children’s Health,Key Laboratory of Big Data for Spinal Deformities
[4] Peking Union Medical College Hospital,Medical Research Center
[5] Chinese Academy of Medical Sciences,undefined
[6] Beijing Key Laboratory for Genetic Research of Skeletal Deformity,undefined
[7] Peking Union Medical College Hospital,undefined
[8] Chinese Academy of Medical Sciences,undefined
[9] Peking Union Medical College Hospital,undefined
[10] Peking Union,undefined
来源
Orphanet Journal of Rare Diseases | / 17卷
关键词
Hypospadias; Pedigree; Proto-oncogene proteins B-raf (BRAF); Mitogen-activated protein kinases (MAPK); p38 mitogen-activated protein kinases; Sex-determining region Y protein (SRY);
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