Isolated Pierre Robin Syndrome

Isolated Pierre Robin Syndrome(来自ICD-11)
别称:
Isolated Pierre Robin Sequence
Isolated Pierre-Robin Syndrome
Glossoptosis, Micrognathia, and Cleft Palate
Pierre Robin Syndrome
Pierre-Robin Syndrome
Robin Sequence
Robin Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Isolated Pierre Robin Syndrome, also known as isolated pierre robin sequence, is related to pierre robin syndrome and rare disease with pierre robin syndrome. An important gene associated with Isolated Pierre Robin Syndrome is EBF3 (EBF Transcription Factor 3). The drugs Temazepam and D-Threonine have been mentioned in the context of this disorder. Affiliated tissues include tongue and bone, and related phenotypes are cleft palate and micrognathia
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基础信息

遗传方式
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参考文献
MALACARDS
--
Unknown
1-5/10000
5
55
5

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靶点药物

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临床阶段
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MGI
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