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Sonographic diagnosis of fetal eye anomalies and their association with syndromal diseases: A retrospective multicenter analysis of 264 cases.
PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.
A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip-palate cleft: A case report and expansion of the phenotype.
[Prenatal diagnosis of a case with Schuurs-Hoeijmakers syndrome].
Pleural-based giant solitary fibrous tumour with associated hypoglycaemia: unusual presentation with pulmonary hypertension in a patient with Doege-Potter syndrome.