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1
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.
Eur J Hum Genet. 2010 Dec;18(12):1310-4. doi: 10.1038/ejhg.2010.116. Epub 2010 Jul 21.
3
A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.
J Med Genet. 2010 Sep;47(9):638-9. doi: 10.1136/jmg.2009.074690. Epub 2010 Jun 24.
5
Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.
Eur J Hum Genet. 2011 Nov;19(11):1198-201. doi: 10.1038/ejhg.2011.95. Epub 2011 Jun 8.
6
Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.
Eur J Hum Genet. 2020 Mar;28(3):324-332. doi: 10.1038/s41431-019-0522-2. Epub 2019 Oct 7.
7
A unique phenotype of 2q24.3-2q32.1 duplication: early infantile epileptic encephalopathy without mesomelic dysplasia.
J Child Neurol. 2014 Feb;29(2):260-4. doi: 10.1177/0883073813478659. Epub 2013 Mar 1.
8
Kantaputra mesomelic dysplasia: a second reported family.
Am J Med Genet A. 2004 Jul 1;128A(1):6-11. doi: 10.1002/ajmg.a.20640.
9
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.
J Hum Genet. 1998;43(1):32-6. doi: 10.1007/s100380050033.
10
Mesomelic dysplasias associated with the HOXD locus are caused by regulatory reallocations.
Nat Commun. 2021 Aug 18;12(1):5013. doi: 10.1038/s41467-021-25330-y.

引用本文的文献

1
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Am J Hum Genet. 2024 Jun 6;111(6):1140-1164. doi: 10.1016/j.ajhg.2024.04.018. Epub 2024 May 21.
2
Genetic cold cases: lessons from solving complex congenital limb disorders.
Genes Dev. 2023 Apr 1;37(7-8):261-276. doi: 10.1101/gad.350450.123. Epub 2023 Mar 29.
3
Mesomelic dysplasias associated with the HOXD locus are caused by regulatory reallocations.
Nat Commun. 2021 Aug 18;12(1):5013. doi: 10.1038/s41467-021-25330-y.
4
High Fidelity of Mouse Models Mimicking Human Genetic Skeletal Disorders.
Front Endocrinol (Lausanne). 2020 Feb 4;10:934. doi: 10.3389/fendo.2019.00934. eCollection 2019.
5
Comparison of sequencing based CNV discovery methods using monozygotic twin quartets.
PLoS One. 2015 Mar 26;10(3):e0122287. doi: 10.1371/journal.pone.0122287. eCollection 2015.
7
Functional and topological characteristics of mammalian regulatory domains.
Genome Res. 2014 Mar;24(3):390-400. doi: 10.1101/gr.163519.113. Epub 2014 Jan 7.
8
Analysis of copy number variations in the sheep genome using 50K SNP BeadChip array.
BMC Genomics. 2013 Apr 8;14:229. doi: 10.1186/1471-2164-14-229.
9
Impact of copy number variations (CNVs) on long-range gene regulation at the HoxD locus.
Proc Natl Acad Sci U S A. 2012 Dec 11;109(50):20204-11. doi: 10.1073/pnas.1217659109. Epub 2012 Nov 7.
10
Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.
Eur J Hum Genet. 2011 Nov;19(11):1198-201. doi: 10.1038/ejhg.2011.95. Epub 2011 Jun 8.

本文引用的文献

1
A highly annotated whole-genome sequence of a Korean individual.
Nature. 2009 Aug 20;460(7258):1011-5. doi: 10.1038/nature08211. Epub 2009 Jul 8.
2
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.
Am J Hum Genet. 2009 Apr;84(4):483-92. doi: 10.1016/j.ajhg.2009.03.001. Epub 2009 Mar 26.
4
The role of Hox genes during vertebrate limb development.
Curr Opin Genet Dev. 2007 Aug;17(4):359-66. doi: 10.1016/j.gde.2007.05.011. Epub 2007 Jul 20.
6
Control of Hoxd genes' collinearity during early limb development.
Dev Cell. 2006 Jan;10(1):93-103. doi: 10.1016/j.devcel.2005.11.014.
7
Breakpoints around the HOXD cluster result in various limb malformations.
J Med Genet. 2006 Feb;43(2):111-8. doi: 10.1136/jmg.2005.033555. Epub 2005 Jun 24.
9
Kantaputra mesomelic dysplasia: a second reported family.
Am J Med Genet A. 2004 Jul 1;128A(1):6-11. doi: 10.1002/ajmg.a.20640.

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