Aase-Smith sendromu
Tip 1
Kalıtsal - AD
Eklem kontraktürleri
Yarık damak
Trismus
Dandy-Walker malformasyonları
Hidrosefalus
Kalpte septum defektleri
Tip 2 (Diamond-Blackfan anemisi/sendromu)
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Becker K, Splitt M. A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome. Clinical Dysmorphology, 10: 41-45, 2001
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Soker M, Ayyıldız O, Işıkdoğan A. Aase-Smith syndrome type II. Saudi Medical Journal, 25(12):2004-2006, 2004
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Balcı S. Limb anomalies and anemia: Aase-Smith syndrome. Fetal & Pediatric Pathology, 27(6):292-293, 2008
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Gazda HT, Sheen MR, Vlachos A, et al. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. American Journal of Human Genetics, 86(6):769-780, 2008