| 1 | DDR2, SEMD5
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| Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.
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| Ali BR, Xu H, Akawi NA, John A, Karuvantevida NS, Langer R, Al-Gazali L, Leitinger B.
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| Hum Mol Genet 19(11):2239-50. Epub 2010 Mar 10.PMID: 20223752 2010
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| 2 | DDR2, SEMD5
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| Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.
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| Bargal R, Cormier-Daire V, Ben-Neriah Z, Le Merrer M, Sosna J, Melki J, Zangen DH, Smithson SF, Borochowitz Z, Belostotsky R, Raas-Rothschild A.
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| Am J Hum Genet 84(1):80-4. Epub 2008 Dec 24.
2009
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| 3 | SEMD5
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| Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type.
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| al-Gazali LI, Bakalinova D, Sztriha L.
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| Clin Dysmorphol 5(3):197-206.
1996
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| 4 | SEMD5
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| Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features.
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| Langer LO Jr, Wolfson BJ, Scott CI Jr, Reid CS, Schidlow DV, Millar EA, Borns PF, Lubicky JP, Carpenter BL.
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| Am J Med Genet 45(4):488-500.
1993
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| 5 | SEMD5
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| Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.
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| Borochowitz Z, Langer LO Jr, Gruber HE, Lachman R, Katznelson MB, Rimoin DL.
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| Am J Med Genet 45(3):320-6.
1993
|