Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

FOXC1 is a ubiquitously expressed forkhead transcription factor that plays a critical role during early development. Germline pathogenic variants in FOXC1 are associated with anterior segment dysgenesis and Axenfeld-Rieger syndrome (ARS, #602482), an autosomal dominant condition with ophthalmologic...

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Detalles Bibliográficos
Autores principales: Garza Flores, Alexandra, Nordgren, Ida, Pettersson, Maria, Dias-Santagata, Dora, Nilsson, Daniel, Hammarsjö, Anna, Lindstrand, Anna, Batkovskyte, Dominyka, Wiggs, Janey, Walton, David S., Goldenberg, Paula, Eisfeldt, Jesper, Lin, Angela E., Lachman, Ralph S., Nishimura, Gen, Grigelioniene, Giedre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10326848/
https://www.ncbi.nlm.nih.gov/pubmed/37424725
http://dx.doi.org/10.3389/fgene.2023.1174046

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