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Cases of toxic anterior segment syndrome after primary pterygium surgery.
Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.
Co-occurrence of hemiscrotal agenesis with cutis marmorata telangiectatica congenita and hydronephrosis affecting the same side of the body.