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单词 nail–patella syndrome
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nail–patella syndrome
nail–patella syndrome n. Medicine an inherited (autosomal dominant) disorder characterized by hypoplasia or absence of the patellae, dystrophy of the nails, and often abnormalities of the elbow joints and nephropathy.
ΚΠ
1955 Ann. Human Genetics 19 312 The nail patella syndrome or hereditary onchyo-osteodysplasia is controlled by a regular autosomal dominant gene.
1994 Jrnl. Indian Med. Assoc. 92 124/1 The nail–patella syndrome is a relatively rare disease of autosomal dominant inheritance.
2001 Human Mutation 18 458 We report twenty-two novel mutations in the gene encoding the transcription factor LMX1B, previously shown to be mutated in persons with Nail Patella Syndrome.
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