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MRI in Leigh syndrome with SURF1 gene mutation

✍ Scribed by Mario Savoiardo; Massimo Zeviani; Graziella Uziel; Laura Farina

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 61 KB
Volume: 51
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.10031

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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