The Turkish Journal of Pediatrics 2017 , Vol 59 , Num 5
A case with Rubinstein–Taybi syndrome: A novel frameshift mutation in the CREBBP gene
Metin Eser 1 ,Akif Ayaz 2 ,Gözde Yeşil 3
1 Department of Medical Genetics, Aydın State Hospital, Aydın, Turkey
2 Department of Medical Genetics, Adana Numune Training and Research Hospital, Adana, Turkey
3 Department of Genetics, Bezmialem Vakıf University, School of Medicine, Istanbul, Turkey
DOI : 10.24953/turkjped.2017.05.017 Keywords :
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