Associated Papers
Excluding embryos with two novel mutations in FREM2 gene by the next-generation sequencing-based single nucleotide polymorphism haplotyping.
Zhou Y et al.
Aging, 2021
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.
Yu Q et al.
Human Molecular Genetics, 2018
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COBR
Molecular study of 33 families with Fraser syndrome new data and mutation review.
van Haelst MM et al.
American Journal of Medical Genetics. Part A, 2008
Fraser syndrome due to homozygosity for a splice site mutation of FREM2.
Shafeghati Y et al.
American Journal of Medical Genetics. Part A, 2008
Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.
Slavotinek A et al.
American Journal of Medical Genetics. Part A, 2006
The genetics of Fraser syndrome and the blebs mouse mutants.
Smyth I et al.
Human Molecular Genetics, 2005
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.
Jadeja S et al.
Nature Genetics, 2005
Fraser syndrome: affected siblings born to nonconsanguineous parents and diagnosed at autopsy.
De Jong A et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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