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单词 Gruber syndrome
释义

Gruber syndrome

英语百科

Meckel syndrome

This condition is inherited in an autosomal recessive pattern, meaning two copies of the gene in each cell are altered

Meckel syndrome (also known as Meckel–Gruber Syndrome, Gruber Syndrome, Dysencephalia Splanchnocystica) is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations (occipital encephalocele), polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.

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