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Craniometaphyseal Dysplasia Autosomal Dominant : ウィキペディア英語版
Craniometaphyseal dysplasia autosomal dominant
Craniometaphyseal Dysplasia Autosomal Dominant is a disorder is a rare skeletal disorder that results from a heterozygous mutation in human homologous of progress in ankylosis gene (ANKH). Abnormal bone overgrowth occurs from the beginning of a child's life as well as throughout their lifetime resulting in the narrowing of the cranial formania.This leads to cranial nerve and facial features compression. In addition, this disorder is located on the 5p chomsome.
==Causes==

The mutation in ANKH gene causes a decrease in the to transport pyrophosphate out of cells. Pyrophosphate regulates bone formation by preventing mineralization. The ANKH gene provides instructions for making a protein present in the bones. Only one mutated ANKH gene can cause autosomal dominant Craniometahyseal Dysplasia.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「Craniometaphyseal dysplasia autosomal dominant」の詳細全文を読む



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