A CASE OF TREACHER COLLINS SYNDROME
Küçük Resim Yok
Tarih
2013
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Macedonian Acad Sciences Arts
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c. 1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c. 1021_1022delAG mutation.
Açıklama
Anahtar Kelimeler
TCOF1 Gene, Treacher Collins Syndrome (TCS), Mandibulofacial Dysostosis, De Novo Mutation, Dysostosis, Gene
Kaynak
Balkan Journal Of Medical Genetics
WoS Q Değeri
Q4
Scopus Q Değeri
Q4
Cilt
16
Sayı
2
