Fraser syndrome without cryptophthalmos: Two cases.
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DOI: 10.1016/j.ejmg.2020.103839
Abstract: 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… read more here.
Keywords: fraser syndrome; cases fraser; without cryptophthalmos; syndrome without ... See more keywords