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Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).
Novel pregnancy-triggered episodes of CAPOS syndrome.
ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.
The association of maternal lymphatic markers and critical congenital heart defects in the fetus-A population based case-control study.
Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study.
Response to Finsterer and Stöllberger "Explanations for discordance of noncompaction in monozygotic twins".
Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.
Aortic dimensions in Turner syndrome.