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Items: 3

Select item 76452001.

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy

Maria F. Shurygina, Joseph M. Simonett, Maria A. Parker, Amanda Mitchell, Florin Grigorian, Jacob Lifton, Aaron Nagiel, Alexander A. Shpak, Elena L. Dadali, Irina A. Mishina, Richard G. Weleber, Paul Yang, Mark E. Pennesi

Invest Ophthalmol Vis Sci. 2020 Nov; 61(13): 2. Published online 2020 Nov 2. doi: 10.1167/iovs.61.13.2

PMCID:: PMC7645200

Abstract Article PDF–8.0M

Select item 51179222.

Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy

Makiko Tsutsumi, Setsuri Yokoi, Fuyuki Miya, Masafumi Miyata, Mitsuhiro Kato, Nobuhiko Okamoto, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh, Hiroki Kurahashi

Eur J Hum Genet. 2016 Dec; 24(12): 1702–1706. Published online 2016 Sep 21. doi: 10.1038/ejhg.2016.119

PMCID:: PMC5117922

Abstract Article PDF–1.2M

Select item 32766603.

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Pia Ostergaard, Michael A. Simpson, Antonella Mendola, Pradeep Vasudevan, Fiona C. Connell, Andreas van Impel, Anthony T. Moore, Bart L. Loeys, Arash Ghalamkarpour, Alexandros Onoufriadis, Ines Martinez-Corral, Sophie Devery, Jules G. Leroy, Lut van Laer, Amihood Singer, Martin G. Bialer, Meriel McEntagart, Oliver Quarrell, Glen Brice, Richard C. Trembath, Stefan Schulte-Merker, Taija Makinen, Miikka Vikkula, Peter S. Mortimer, Sahar Mansour, Steve Jeffery

Am J Hum Genet. 2012 Feb 10; 90(2): 356–362. doi: 10.1016/j.ajhg.2011.12.018