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Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.
Am J Hum Genet. 2016 Aug 4;99(2):407-13. doi: 10.1016/j.ajhg.2016.06.005. Epub 2016 Jul 14.
Am J Hum Genet. 2016.
PMID: 27426734
Free PMC article.
Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome?
Sousa SB, Baujat G, Abadie V, Bonnet D, Sidi D, Munnich A, Krakow D, Cormier-Daire V.
Sousa SB, et al.
Am J Med Genet A. 2010 Mar;152A(3):539-46. doi: 10.1002/ajmg.a.33277.
Am J Med Genet A. 2010.
PMID: 20186786
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