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Exclusion of candidate genes in a family with arterial tortuosity syndrome

✍ Scribed by Gardella, Rita ;Zoppi, Nicoletta ;Assanelli, Deodato ;Muiesan, Maria Lorenza ;Barlati, Sergio ;Colombi, Marina


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
264 KB
Volume
126A
Category
Article
ISSN
0148-7299

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## Abstract We report on a four‐generation family with X‐linked anophthalmia in four affected males and show that this family has LOD scores consistent with linkage to Xq27, the third family reported to be linked to the __ANOP1__ locus. We sequenced the __SOX3__ gene at Xq27 as a candidate gene for