## Abstract Fraser syndrome (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal, and genitourinary malformations, oral clefting and mental retardation. Mutations causing loss of function of the __FRAS1__ gene
Expanding the mutation spectrum for Fraser syndrome: Identification of a novel heterozygous deletion in FRAS1
β Scribed by Hoefele, Julia; Wilhelm, Christian; Schiesser, Monika; Mack, Reinhold; Heinrich, Uwe; Weber, Lutz T.; Biskup, Saskia; Daumer-Haas, Cornelia; Klein, Hanns-Georg; Rost, Imma
- Book ID
- 122348204
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 676 KB
- Volume
- 520
- Category
- Article
- ISSN
- 0378-1119
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