A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum
M Ajam-Hosseini, F Parvini, A Angaji - BMC Medical Genomics, 2023 - Springer
Background SALL4, a member of the SALL genes family, encodes a zinc-finger
transcriptional factor that either activates or represses gene transcription depending on cell …
transcriptional factor that either activates or represses gene transcription depending on cell …
CLINICAL AND MOLECULAR RESULTS OF SIX CASES WITH ROBERTS SYNDROME: REVIEW OF CASES FROM TURKIYE
Objective: Roberts syndrome is a rare autosomal recessive disease characterized by limb
defects, prenatal onset growth retardation, and craniofacial anomalies. We aimed to …
defects, prenatal onset growth retardation, and craniofacial anomalies. We aimed to …
[HTML][HTML] ROBERTS SENDROMLU ALTI OLGUNUN KLİNİK VE MOLEKÜLER SONUÇLARI İLE TÜRKİYE'DEN BİLDİRİLEN OLGULARIN GÖZDEN GEÇİRİLMESİ
A Ayça, K Esma, G Çağrı, A Şahin… - İstanbul Tıp …, 2022 - iupress.istanbul.edu.tr
Amaç: Roberts sendromu; ekstremite anomalileri, prenatal başlangıçlı büyüme gelişme
geriliği ve kraniyofasiyal anomaliler ile karakterize nadir görülen otozomal resesif kalıtılan …
geriliği ve kraniyofasiyal anomaliler ile karakterize nadir görülen otozomal resesif kalıtılan …