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Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Eur J Hum Genet. 2014 Nov;22(11):1272-7. doi: 10.1038/ejhg.2013.288. Epub 2014 Jan 15.
Eur J Hum Genet. 2014.
PMID: 24424121
Free PMC article.
Novel SMAD4 mutation causing Myhre syndrome.
Caputo V, Bocchinfuso G, Castori M, Traversa A, Pizzuti A, Stella L, Grammatico P, Tartaglia M.
Caputo V, et al.
Am J Med Genet A. 2014 Jul;164A(7):1835-40. doi: 10.1002/ajmg.a.36544. Epub 2014 Apr 8.
Am J Med Genet A. 2014.
PMID: 24715504
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