Potocki-Lupski syndrome mimicking a connective tissue disorder

doi:10.1097/MCD.0b013e328303b9c2

Case Reports

. 2008 Jul;17(3):211-213.

doi: 10.1097/MCD.0b013e328303b9c2.

Potocki-Lupski syndrome mimicking a connective tissue disorder

Judy Martin¹, Samantha J L Knight, Andrew J Sharp, Evan E Eichler, Jane Hurst, Usha Kini

Affiliations

Affiliation

¹ Magdalen College, University of Oxford Oxford NIHR Biomedical Research Centre, The Wellcome Trust Centre for Human Genetics Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, UK Department of Genome Sciences, University of Washington School of Medicine Howard Hughes Medical Institute, Washington, USA.

PMID: 18541972
DOI: 10.1097/MCD.0b013e328303b9c2

Case Reports

Potocki-Lupski syndrome mimicking a connective tissue disorder

Judy Martin et al. Clin Dysmorphol. 2008 Jul.

. 2008 Jul;17(3):211-213.

doi: 10.1097/MCD.0b013e328303b9c2.

Authors

Judy Martin¹, Samantha J L Knight, Andrew J Sharp, Evan E Eichler, Jane Hurst, Usha Kini

Affiliation

¹ Magdalen College, University of Oxford Oxford NIHR Biomedical Research Centre, The Wellcome Trust Centre for Human Genetics Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, UK Department of Genome Sciences, University of Washington School of Medicine Howard Hughes Medical Institute, Washington, USA.

PMID: 18541972
DOI: 10.1097/MCD.0b013e328303b9c2

No abstract available

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Cited by

The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison.
Bissell S, Wilde L, Richards C, Moss J, Oliver C. Bissell S, et al. J Neurodev Disord. 2018 Jan 10;10(1):2. doi: 10.1186/s11689-017-9221-x. J Neurodev Disord. 2018. PMID: 29329513 Free PMC article.

References

1. Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, et al. 2003. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 33:407–411.
1. Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, et al. 2000. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 24:84–87.
1. Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, et al. 2007. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80:633–649.
1. Zhao Z, Lee CC, Jiralerspong S, Juyal RC, Lu F, Baldini A, et al. 1995. The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. Hum Mol Genet 4:589–597.

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[1] Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, et al. 2003. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 33:407–411.

[2] Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, et al. 2003. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 33:407–411.

[3] Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, et al. 2000. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 24:84–87.

[4] Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, et al. 2000. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 24:84–87.

[5] Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, et al. 2007. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80:633–649.

[6] Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, et al. 2007. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80:633–649.

[7] Zhao Z, Lee CC, Jiralerspong S, Juyal RC, Lu F, Baldini A, et al. 1995. The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. Hum Mol Genet 4:589–597.

[8] Zhao Z, Lee CC, Jiralerspong S, Juyal RC, Lu F, Baldini A, et al. 1995. The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. Hum Mol Genet 4:589–597.

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Potocki-Lupski syndrome mimicking a connective tissue disorder

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Potocki-Lupski syndrome mimicking a connective tissue disorder

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