Brachydactyly, Type A4 (BDA4)

Brachydactyly, Type A4(来自ICD-11)
别称:
Brachymesophalangy Ii and V
Brachydactyly Type A4
Brachydactyly, Temtamy Type
Temtamy Type Brachydactyly
Brachymesophalangy 2 and 5
Bda4
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Brachydactyly, Type A4, also known as brachymesophalangy ii and v, is related to brachydactyly-syndactyly syndrome and brachydactyly, type a2. An important gene associated with Brachydactyly, Type A4 is HOXD13 (Homeobox D13), and among its related pathways/superpathways are Elastic fibre formation and G-protein signaling_Rap2B regulation pathway. Affiliated tissues include bone and heart, and related phenotypes are short middle phalanx of the 5th finger and shortening of all middle phalanges of the toes
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基础信息

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参考文献
MALACARDS
AD
Newborn
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8
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3

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