Associated Papers
Two novel mutations within FREM1 gene in patients with bifid nose.
Chen X et al.
Bmc Pediatrics, 2023
The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement.
Munch TN et al.
Brain Communications, 2023
36694575 (PubMed )
Supplement: fcad004_supplementary_data.docx
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.
Chassaing N et al.
Genome Research, 2016
26893459 (PubMed )
Supplement: supp_gr.196048.115_Supp_Tables_2-7.docx
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
Vissers LE et al.
Plos Genetics, 2011
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