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2011 | 2 |
2012 | 1 |
2024 | 0 |
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Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Am J Hum Genet. 2012 Feb 10;90(2):356-62. doi: 10.1016/j.ajhg.2011.12.018. Epub 2012 Jan 26.
Am J Hum Genet. 2012.
PMID: 22284827
Free PMC article.
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, Dafou D, Kilo T, Smithson S, Lunt P, Murday VA, Hodgson S, Keenan R, Pilz DT, Martinez-Corral I, Makinen T, Mortimer PS, Jeffery S, Trembath RC, Mansour S.
Ostergaard P, et al.
Nat Genet. 2011 Sep 4;43(10):929-31. doi: 10.1038/ng.923.
Nat Genet. 2011.
PMID: 21892158
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Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.
Denais C, Dent CL, Southgate L, Hoyle J, Dafou D, Trembath RC, Machado RD.
Denais C, et al.
Hum Mutat. 2011 Feb;32(2):231-9. doi: 10.1002/humu.21413.
Hum Mutat. 2011.
PMID: 21280149
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