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Paprocka J, Nowak M, Nieć M, et al. Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With . Front Med (Lausanne). 2021;8:708717doi: 10.3389/fmed.2021.708717.
Paprocka, J., Nowak, M., Nieć, M., Janik, I., Rydzanicz, M., Robert, �. �., Klaniewska, M., Rutkowska, K., Płoski, R., & Jezela-Stanek, A. (2021). Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With . Frontiers in medicine, 8708717. https://doi.org/10.3389/fmed.2021.708717
Paprocka, Justyna, et al. "Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With ." Frontiers in medicine vol. 8 (2021): 708717. doi: https://doi.org/10.3389/fmed.2021.708717
Paprocka J, Nowak M, Nieć M, Janik I, Rydzanicz M, Robert Ś, Klaniewska M, Rutkowska K, Płoski R, Jezela-Stanek A. Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With . Front Med (Lausanne). 2021 Aug 26;8:708717. doi: 10.3389/fmed.2021.708717. eCollection 2021. PMID: 34513876; PMCID: PMC8428514.
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Front Med (Lausanne). 2021 Aug 26;8:708717. doi: 10.3389/fmed.2021.708717. eCollection 2021.

Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With .

Frontiers in medicine

Justyna Paprocka, Magdalena Nowak, Maria Nieć, Izabela Janik, Małgorzata Rydzanicz, Śmigiel Robert, Magdalena Klaniewska, Karolina Rutkowska, Rafał Płoski, Aleksandra Jezela-Stanek

Affiliations

  1. Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
  2. Students' Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
  3. Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  4. Department of Paediatrics, Division of Propaedeutic of Paediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland.
  5. Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.

PMID: 34513876 PMCID: PMC8428514 DOI: 10.3389/fmed.2021.708717

Abstract

Germline variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) gene have recently been described in about 50 patients with developmental delay and cardiac, facial, and digital anomalies (CAFDADD). We aimed to depict further the clinical and genetic spectrum associated with

Copyright © 2021 Paprocka, Nowak, Nieć, Janik, Rydzanicz, Robert, Klaniewska, Rutkowska, Płoski and Jezela-Stanek.

Keywords: TRAF7 variants; blepharophimosis; developmental delay; dysmorphic features; facial features; ptosis

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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