Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants

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 TRAF7 ger...

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Detalles Bibliográficos
Autores principales: Paprocka, Justyna, Nowak, Magdalena, Nieć, Maria, Janik, Izabela, Rydzanicz, Małgorzata, Robert, Śmigiel, Klaniewska, Magdalena, Rutkowska, Karolina, Płoski, Rafał, Jezela-Stanek, Aleksandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8428514/
https://www.ncbi.nlm.nih.gov/pubmed/34513876
http://dx.doi.org/10.3389/fmed.2021.708717

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8428514/
https://www.ncbi.nlm.nih.gov/pubmed/34513876
http://dx.doi.org/10.3389/fmed.2021.708717

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