Short-rib thoracic dysplasia 3
Saldino-Noonan sendromu
Kalıtsal - AD/AR
Gelişme geriliği
Yarık damak
Dilde hamartoma
Toraks küçük
Akciğer hipoplazisi
Kostalar kısa
Klavikula malformasyonu
Displastik ve polikistik böbrekler
Genital organlarda malformasyonlar
Enkondral ossifikasyon bozuklukları
Uzun kemikler kısa
Tibia agenezi
Skolyoz
Pelvis anomalileri
Parmak anomalileri
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Elçioğlu NH, Hall CM. Diagnostic dilemmas in the short rib-polydactyly syndrome group. American Journal of Medical Genetics, 111: 392-400, 2002
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Dagoneau N, Goulet M, Genevieve D, et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. American Journal of Human Genetics, 84: 706-711, 2009
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Huber C, Cormier-Daire V. Ciliary disorder of the skeleton. American Journal of Medical Genetics, 160C: 165-174, 2012
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Schmidts M, Vodopiutz J, Christou-Savina S, et al. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 93: 932-944, 2013