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Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.
Lindy AS, Basehore MJ, Munisha M, Williams AL, Friez MJ, Writzl K, Willems P, Dougan ST. Lindy AS, et al. Am J Med Genet A. 2016 Jun;170(6):1573-9. doi: 10.1002/ajmg.a.37609. Epub 2016 Mar 30. Am J Med Genet A. 2016. PMID: 27028100
In this report, we describe a novel FGFR3 insertion mutation in a fetus with shortened limbs, curved femurs, and a narrow thorax. The diagnosis of thanatophoric dysplasia type 1 was suspected clinically, and FGFR3 sequencing showed a c.742_743insTGT va …
In this report, we describe a novel FGFR3 insertion mutation in a fetus with shortened limbs, curved femurs, and a narrow thorax. The diagno …
Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin.
Salinas-Torres VM. Salinas-Torres VM. Genet Couns. 2015;26(1):61-5. Genet Couns. 2015. PMID: 26043509
Here is reported for the first time, a case of thanatophoric dysplasia type 1 with cloverleaf skull in a (Mexican) dichorionic female twin. ...Moreover, the present observation confirms that thanatophoric dysplasia type 1 …
Here is reported for the first time, a case of thanatophoric dysplasia type 1 with cloverleaf skull in a (Mexica …