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Year | Number of Results |
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2003 | 1 |
2004 | 1 |
2007 | 1 |
2024 | 0 |
PubMed (cited) for id: 607598
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Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.
Am J Hum Genet. 2007 Sep;81(3):589-95. doi: 10.1086/520770. Epub 2007 Jul 24.
Am J Hum Genet. 2007.
PMID: 17701904
Free PMC article.
Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13.
Narkis G, Landau D, Manor E, Elbedour K, Tzemach A, Fishelson M, Geiger D, Ofir R, Carmi R, Birk OS.
Narkis G, et al.
Am J Med Genet A. 2004 Oct 15;130A(3):272-6. doi: 10.1002/ajmg.a.30266.
Am J Med Genet A. 2004.
PMID: 15378541
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A new autosomal recessive congenital contractural syndrome in an Israeli Bedouin kindred.
Landau D, Mishori-Dery A, Hershkovitz R, Narkis G, Elbedour K, Carmi R.
Landau D, et al.
Am J Med Genet A. 2003 Feb 15;117A(1):37-40. doi: 10.1002/ajmg.a.10894.
Am J Med Genet A. 2003.
PMID: 12548738
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