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2025
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Year | Number of Results |
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2000 | 2 |
2002 | 1 |
2025 | 0 |
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The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism.
Hum Mol Genet. 2000 Aug 12;9(13):1951-5. doi: 10.1093/hmg/9.13.1951.
Hum Mol Genet. 2000.
PMID: 10942423
Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.
Ikegawa S, Ohashi H, Ogata T, Honda A, Tsukahara M, Kubo T, Kimizuka M, Shimode M, Hasegawa T, Nishimura G, Nakamura Y.
Ikegawa S, et al.
Am J Med Genet. 2000 Oct 2;94(4):300-5. doi: 10.1002/1096-8628(20001002)94:4<300::aid-ajmg7>3.0.co;2-3.
Am J Med Genet. 2000.
PMID: 11038443
Review.
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Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).
Herman GE, Kelley RI, Pureza V, Smith D, Kopacz K, Pitt J, Sutphen R, Sheffield LJ, Metzenberg AB.
Herman GE, et al.
Genet Med. 2002 Nov-Dec;4(6):434-8. doi: 10.1097/00125817-200211000-00006.
Genet Med. 2002.
PMID: 12509714
Free article.
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