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The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation.
Castori M, Morlino S, Radio FC, De Bernardo C, Grammatico P. Castori M, et al. Among authors: morlino s. Am J Med Genet A. 2013 Oct;161A(10):2675-7. doi: 10.1002/ajmg.a.36131. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24038754 No abstract available.
An additional patient with 3q27.3 microdeletion syndrome.
Castori M, Bottillo I, Laino L, Morlino S, Grammatico B, Grammatico P. Castori M, et al. Among authors: morlino s. J Child Neurol. 2015 Mar;30(4):500-4. doi: 10.1177/0883073814539557. Epub 2014 Jul 17. J Child Neurol. 2015. PMID: 25038125
67 results