英语词汇“meckel 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	meckel syndrome type 6
释义	Meckel syndrome type 6 Meckel syndrome type 6 An autosomal recessive disorder (OMIM:612284) characterised by renal cysts and variably associated features, including developmental anomalies of the CNS (e.g., encephalocele, hepatic duct dysplasia and cysts) and polydactyly. Molecular pathology Caused by defects CC2D2A, which encodes a protein required for ciliogenesis and sonic hedgehog/SHH signalling.
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Meckel syndrome type 6