Blar i Bergen Open Research Archive på forfatter "Houge, Sofia Douzgou"
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Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants
Hoem, Gry; Pastore, Arianna; Bratland, Eirik; Christoffersen, Terje; Stornaiuolo, Mariano; Houge, Sofia Douzgou (Journal article; Peer reviewed, 2024)Familial exudative vitreoretinopathy (FEVR) is linked to disruption of the Norrin/Frizzled-4 signaling pathway, which plays an important role in retinal angiogenesis. Severe or complete knock-down of proteins in the pathway ... -
Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism
Corder, Megan L.; Berland, Siren; Førsvoll, Jostein Andersen; Banerjee, Indraneel; Murray, Phil; Bratland, Eirik; Gokhale, David; Houge, Gunnar Douzgos; Houge, Sofia Douzgou (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 ...