A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation
Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses
De-novo ‘pure’ partial trisomy (6)(p22.3→pter)
A del(13)(q21.32q31.2)dn refined to 21.9 Mb in a female toddler with irides heterochromia and hypopigmentation
Short case report
A case of 9q21.11q22.1 triplication with novel ophthalmic features
Follicular thyroid carcinoma in a male adolescent with Williams–Beuren syndrome
Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score
Recognizing vascular Ehlers–Danlos syndrome (type IV) in the newborn
A rare cause of temple syndrome