Browsing Department of Clinical Science by Journals "American Journal of Medical Genetics. Part A"
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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 ...