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Article

A novel frameshift mutation in Allan-Herndon-Dudley syndrome.

International journal of legal medicine - 1 Jul 2022

Liu Zihao, Zhao Shuquan, Chen Jianyi, Ma Longda, Shi Qing, Zhou Yiwu

Abstract excerpt

Allan-Herndon-Dudley syndrome (AHDS) is a very rare, X-linked psychomotor disability syndrome with delayed myelination, almost exclusively affecting boys. We present a case of a 4-year-old boy with AHDS who was found cyanotic, with intermittent vomiting and paroxysmal convulsions about 4 h after his parents went out, and was then taken to the hospital, where he eventually died the next day. The autopsy revealed...

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PMID: 35391604
DOI: 10.1007/s00414-022-02823-z

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