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

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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Bibliographic Details
Main Authors: Alexandra Garza Flores, Ida Nordgren, Maria Pettersson, Dora Dias-Santagata, Daniel Nilsson, Anna Hammarsjö, Anna Lindstrand, Dominyka Batkovskyte, Janey Wiggs, David S. Walton, Paula Goldenberg, Jesper Eisfeldt, Angela E. Lin, Ralph S. Lachman, Gen Nishimura, Giedre Grigelioniene
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Genetics
Subjects:
FOXC1
Axenfeld-Rieger Syndrome
De Hauwere Syndrome
skeletal anomalies
genome sequencing
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1174046/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1174046/full

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