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Items: 4

1.
The effects of microduplication 1q21.1 and in-utero isotretinoin exposure
Sarah Kirsten Taylor, Remy Toko
BMJ Case Rep. 2017; 2017: bcr2017219311. Published online 2017 Nov 4. doi: 10.1136/bcr-2017-219311
PMCID:
PMC5747646
AbstractArticlePDF–213K
2.
A Homozygous B3GAT3 Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes
Kelly L. Jones, Ulrike Schwarze, Margaret P. Adam, Peter H. Byers, Heather C. Mefford
Am J Med Genet A. Author manuscript; available in PMC 2015 Nov 21.
Published in final edited form as: Am J Med Genet A. 2015 Nov; 167(11): 2691–2696. Published online 2015 Jun 18. doi: 10.1002/ajmg.a.37209
PMCID:
PMC4654953
AbstractArticlePDF–689K
3.
Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis
Pia Kuss, Pablo Villavicencio-Lorini, Florian Witte, Joachim Klose, Andrea N. Albrecht, Petra Seemann, Jochen Hecht, Stefan Mundlos
J Clin Invest. 2009 Jan 5; 119(1): 146–156. Published online 2008 Dec 15. doi: 10.1172/JCI36851
PMCID:
PMC2613457
AbstractArticlePDF–4.8M
4.
Partial 12p deletion: a cause for a mental retardation, multiple congenital abnormality syndrome.
N C Magnelli, E Therman
J Med Genet. 1975 Mar; 12(1): 105–108. doi: 10.1136/jmg.12.1.105
PMCID:
PMC1013240
SummaryPage BrowsePDF–1002K

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