Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

Kohlhase, Jürgen, Taschner, Peter E.M., Burfeind, Peter, Pasche, Bastian, Newman, Bill, Blanck, Christopher, Breuning, Martijn H., ten Kate, Leo P. +16 more·1999·The American Journal of Human Genetics

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  2. Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report
    Jiaxiang Fang, Jin-Shi Zhang, Min-min Wang, Lin Liu · 2022 · World Journal of Clinical Cases
  3. Etiology and genes.
    T. Matsunaga · 2014 · Advances in Oto-Rhino-Laryngology
  4. Expanded spectrum of oculo–auriculo–vertebral spectrum with imperforate anus in a male patient who is negative for SALL1 mutations
    A. Slavotinek, K. Vargervik · 2011 · Clinical Dysmorphology
  5. Tetramerisation governs SALL transcription factor function in development and disease
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  6. Townes-Brocks Syndrome as Familial Isolated Bilateral Cup Ear Deformity: A Case Report
    Yanbin Chang, Li-Shuo Yang, Zihan Zhang, Huayu Zhang, Feng Xue · 2026 · Clinical, Cosmetic and Investigational Dermatology
  7. A function of Spalt proteins in heterochromatin organization and maintenance of genomic DNA integrity
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  8. Townes–Brocks syndrome with adult renal impairment in a Chinese family: A case report
    Jing Wu, J. Zhang, Ta Xiao, Ting He · 2023 · World Journal of Clinical Cases
  9. Townes-Brocks Syndrome in Barranquilla, Colombia: Case report and state of the art
    Vanessa Sabella-Jiménez, Carlos Otero-Herrera, Rafael Tovar Berardinelli, Gloria Rolón Martínez, C. Silvera-Redondo, Pilar Garavito-Galofre · 2020 · Salud Uninorte
  10. On-Top Index Pollicization After a Partial Amputation of a Syndactylized Hypoplastic Thumb in a Patient With Townes-Brocks Syndrome.
    M. Lorencin, K. Bulić · 2017 · Annals of Plastic Surgery
  11. Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation
    Y. Seo, K. Lee, Min-Ko Jung, Gu-Hwan Kim, H. Yoo · 2015
  12. Avaliação genética-clínica e audiológica de indivíduos com anomalias de 1º e 2º arcos branquiais associadas à anomalia radial
    Siulan Vendramini · 2006
  13. Gastrointestinal Tract and Hepatobiliary Duct System
    E. Passarge · 2020 · Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics
  14. Renal Dysgenesis
    Fangming Lin, Vishal Patel, Peter Igarashi · 2009 · Elsevier eBooks