Barber-Say sendromu
Kalıtsal - AD
Garip yüz yapısı
Hipertelorizm
Kaşlar seyrek
Belirgin burun
Makrostomi
Dudaklar ince
Prognatizm
Meme uçları agenezi/hipoplazisi
Dış genital organ anomalileri
Deri kuru
Hipertrikoz
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Martinez Santana, S., Perez Alvarez, F., Frias, J. L., Martinez-Frias, M.-L. Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case. American Journal of Medical Genetics, 47: 20-23, 1993
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Ashton-Prolla P, Felix TM. Say syndrome: a new case with cystic renal dysplasia in discordant monozygotic twins. American Journal of Medical Genetics, 70: 353-356, 1997
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Pagnan NAB, Ribeiro EM de SF, Poerner F. Say syndrome: report of a familial case. American Journal of Medical Genetics, 86: 165-167, 1999
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Martins F, Lopez Ortega K, Hiraoka C, et al. Oral and dental abnormalities in Barber-Say syndrome. American Journal of Medical Genetics, 152A: 2569-2573, 2010
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Marchegiani S, Davis T, Tessadori F, et al. Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes. American Journal of Human Genetics, 97: 99-110, 2015