Exome Sequencing Identifies a Homozygous C5orf42 Variant in a Turkish Kindred With Oral-Facial-Digital Syndrome Type VI

類似資料

• Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis
  著者:: Pehlivan, Davut, 等
  出版事項: (2015)
• Rare Variants in the Notch Signaling Pathway Describe a Novel Type of Autosomal Recessive Klippel–Feil Syndrome
  著者:: Karaca, Ender, 等
  出版事項: (2015)
• Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
  著者:: Bayram, Yavuz, 等
  出版事項: (2016)
• Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome
  著者:: Karaca, Ender, 等
  出版事項: (2015)
• Homozygous Loss-of-function Mutations in SOHLH1 in Patients With Nonsyndromic Hypergonadotropic Hypogonadism
  著者:: Bayram, Yavuz, 等
  出版事項: (2015)