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Bowen–Conradi syndrome
Bowen–Conradi syndrome (BCS〔 or BWCNS〔) is a disease in humans that can affect children.〔 The disease is due to an autosomal recessive abnormality of the ''EMG1'' gene, which plays a role in small ribosomal subunit (SSU) assembly.〔〔 The preponderance of diagnoses has been in North American Hutterite children, but BWCNS can affect other population groups.〔〔
BWCNS is a ribosomopathy.〔〔 A D86G mutation of ''EMG1'' destroys an EcoRV restriction endonuclease site in the most highly conserved region of the protein.〔
Skeletal dysmorphology is seen〔〔 and severe prenatal and postnatal growth failure usually leads to death by one year of age.〔
==References==
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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