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Year | Number of Results |
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PubMed for id: 870142
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The association between preaxial polydactyly and radial longitudinal deficiency in syndromic cases: a report on nine families.
J Hand Surg Eur Vol. 2018 Sep;43(7):744-750. doi: 10.1177/1753193418758862. Epub 2018 Feb 16.
J Hand Surg Eur Vol. 2018.
PMID: 29451098
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS; 1q21.1 Study Group.
Rosenfeld JA, et al.
Eur J Hum Genet. 2012 Jul;20(7):754-61. doi: 10.1038/ejhg.2012.6. Epub 2012 Feb 8.
Eur J Hum Genet. 2012.
PMID: 22317977
Free PMC article.
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Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
Klopocki E, Lohan S, Brancati F, Koll R, Brehm A, Seemann P, Dathe K, Stricker S, Hecht J, Bosse K, Betz RC, Garaci FG, Dallapiccola B, Jain M, Muenke M, Ng VC, Chan W, Chan D, Mundlos S.
Klopocki E, et al.
Am J Hum Genet. 2011 Jan 7;88(1):70-5. doi: 10.1016/j.ajhg.2010.11.006. Epub 2010 Dec 17.
Am J Hum Genet. 2011.
PMID: 21167467
Free PMC article.
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Clinical characteristics associated with dup17(q24q25.1) in a mosaic mother and two non-mosaic daughters.
Babovic-Vuksanovic D, Westman JA, Jalal SM, Lindor NM.
Babovic-Vuksanovic D, et al.
Clin Dysmorphol. 1998 Jul;7(3):171-6. doi: 10.1097/00019605-199807000-00003.
Clin Dysmorphol. 1998.
PMID: 9689989
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