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.

Authors :: Castori M
Morlino S
Radio FC
De Bernardo C
Grammatico P
Source :: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Oct; Vol. 161A (10), pp. 2675-7. Date of Electronic Publication: 2013 Aug 16.
Publication Year :: 2013

Subjects :: Abortion, Induced
Adult
Female
Genotype
Humans
Male
Pregnancy
Thanatophoric Dysplasia diagnosis
Mutation
Phenotype
Receptor, Fibroblast Growth Factor, Type 3 genetics
Thanatophoric Dysplasia genetics

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