Townes-Brocks Syndrome (TBS)

汤恩斯-布鲁克斯综合症(来自翻译大模型)

别称:

Townes Syndrome

Renal-Ear-Anal-Radial Syndrome

Sensorineural Hearing Loss with Imperforate Anus and Hypoplastic Thumbs

Sensorineural Deafness with Imperforate Anus and Hypoplastic Thumbs

Imperforate Anus-Hand, Foot and Ear Anomalies Syndrome

Rear Syndrome

Tbs

Deafness, Sensorineural, with Imperforate Anus and Hypoplastic Thumbs

Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

Imperforate Anus-Hand and Foot Anomalies Syndrome

Anal-Ear-Renal-Radial Malformation Syndrome

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

汤恩伯-布鲁克斯综合症，也称为汤恩伯综合症，与先天性肾上腺皮质增生和肛门闭锁有关。与汤恩伯-布鲁克斯综合症相关的重要基因是SALL1（Spalt Like Transcription Factor 1），其相关通路/超级通路包括8p23.1拷贝数变异综合症和控制肾发育的基因。附属组织包括肾脏和骨骼，相关表型包括外耳畸形和肛门闭锁。

查看原文参与反馈