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Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes.
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions.
Possible Congenital Zika Syndrome in Older Children Due to Earlier Circulation of Zika Virus.
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.
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".