Atıf İçin Kopyala
Bayrakli F., Guclu B., Yakicier C., Balaban H., Kartal U., Erguner B., ...Daha Fazla
BMC GENETICS, cilt.14, 2013 (SCI-Expanded)
-
Yayın Türü:
Makale / Tam Makale
-
Cilt numarası:
14
-
Basım Tarihi:
2013
-
Doi Numarası:
10.1186/1471-2156-14-95
-
Dergi Adı:
BMC GENETICS
-
Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
-
Anahtar Kelimeler:
Klippel-Feil syndrome, MEOX1, Whole-exome sequencing, Vertebra, Whole genome linkage analysis, SEQUENCING DATA, FEATURES
-
Marmara Üniversitesi Adresli:
Hayır
Özet
Background: Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals who are the children of a consanguineous marriage are extremely rare in the medical literature, but the gene responsible for this recessive trait subtype of KFS has recently been reported.