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Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders

Reis, LM; Sorokina, EA; Dudakova, L; Moravikova, J; Skalicka, P; Malinka, F; Seese, SE; Thompson, S; Bardakjian, T; Capasso, J; Allen, W; Glaser, T; Levin, AV; Schneider, A; Khan, A; Liskova, P; Semina, EV

Semina, EV (corresponding author), Med Coll Wisconsin, Med Coll, Childrens Res Inst, Dept Pediat, Milwaukee, WI 53226 USA.; Semina, EV (corresponding author), Childrens Hosp Wisconsin, Milwaukee, WI 53226 USA.; Semina, EV (corresponding author), Med Coll Wisconsin, Dept Ophthalmol & Visual Sci, Milwaukee, WI 53226 USA.; Semina, EV (corresponding author), Med Coll Wisconsin, Dept Cell Biol, Milwaukee, WI 53226 USA.; Semina, EV (corresponding author), Med Coll Wisconsin, Dept Neurobiol, Milwaukee,

HUMAN MOLECULAR GENETICS, 2021; 30 (17): 1591

Abstract

The forkhead transcription factor FOXE3 is critical for vertebrate eye development. Recessive and dominant variants cause human ocular disease but the......

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