Article
A locus for ophthalmo-acromelic syndrome mapped to 10p11.23.
American journal of medical genetics. Part A - 1 Mar 2009
Hamanoue Haruka, Megarbane Andre, Tohma Takaya, Nishimura Akira, Mizuguchi Takeshi, Saitsu Hirotomo, Sakai Haruya, Miura Shoko, Toda Tatsushi, Miyake Noriko, Niikawa Norio, Yoshiura Koichiro, Hirahara Fumiki, Matsumoto Naomichi
Abstract excerpt
Ophthalmo-acromelic syndrome (OAS, OMIM %206920) is a rare autosomal recessive disease, presenting with clinical anophthalmia and limb anomalies. We recruited three OAS families including a Japanese family with two affected patients and two consanguineous Lebanese families each having an affected. Homozygosity mapping was performed using the 50K SNP chip and additional informative markers. A locus for OAS was...
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