Eur J Med Genet 2020 Apr 7;63(4):103839. Epub 2020 Jan 7.
CHU Lille, Clinique de Génétique, F-59000, Lille, France; Univ. Lille, RADEME, EA 7364, F-59000, Lille, France. Electronic address:
Fraser syndrome (MIM#219000) is an autosomal recessive disorder, characterized by the association of cryptophthtalmos, syndactyly of the four extremities, urinary tract abnormalities and laryngo-tracheal anomalies. This condition is due to homozygous or compound heterozygous mutations in the FRAS/FREM complex genes: FRAS1, FREM2 and GRIP1. Here we report two atypical cases of Fraser syndrome due to mutations in the FRAS1 gene without cryptophthalmos. Read More