Browsing Faculty of Medicine by Journals "American Journal of Medical Genetics. Part A"
Now showing items 1-2 of 2
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Congenital clubfoot in Europe: A population-based study
(Peer reviewed; Journal article, 2019)We aimed to assess prevalence, birth outcome, associated anomalies and prenatal diagnosis of congenital clubfoot in Europe using data from the EUROCAT network, and to validate the recording of congenital clubfoot as a major ... -
Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism
(Journal article; Peer reviewed, 2022)Variants in transcription factor GLI2 have been associated with hypopituitarism and structural brain abnormalities, occasionally including holoprosencephaly (HPE). Substantial phenotypic variability and nonpenetrance have ...