英语词汇“senior-loken syndrome type 6”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	senior-loken syndrome type 6
释义	Senior-Loken syndrome type 6 Senior-Loken syndrome type 6 An autosomal recessive disorder (OMIM:610189) characterised by progressive wasting of nephrons, with or without medullary cystic kidney disease, and progressive tapetoretinal degeneration. Molecular pathology Caused by defects of CEP290, which encodes a protein belonging to the tectonic-like complex that is required for tissue-specific ciliogenesis and may regulate cilia membrane composition.
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Senior-Loken syndrome type 6