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Gene Information
Gene symbol: DGCR2
Gene name: DiGeorge syndrome critical region gene 2
HGNC ID: 2845
Synonyms: KIAA0163, LAN, IDD, DGS-C, SEZ-12
Related Genes
Related Sentences
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PMID |
Sentence |
1 |
34076843
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The mutation of LIM homeodomain transcription factor LMX1B gene leads to nail-patella syndrome (NPS), which is characterized by dysplastic nails, hypoplastic patellae, iliac horns and nephropathy.
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2 |
34076843
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We present the case of a male with LMX1B-associated nephropathy (LAN) who showed focal segmental glomerulosclerosis (FSGS) on light microscopy, and myelin figures and slight deposits of collagen fibrils on EM, without findings of glomerular basement membrane abnormality suggestive for NPS.
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