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Expanding the mutation spectrum for Fraser syndrome: Identification of a novel heterozygous deletion in FRAS1

✍ 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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## 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

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