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

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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Bibliographic Details
Main Authors: Justyna Paprocka, Magdalena Nowak, Maria Nieć, Izabela Janik, Małgorzata Rydzanicz, Śmigiel Robert, Magdalena Klaniewska, Karolina Rutkowska, Rafał Płoski, Aleksandra Jezela-Stanek
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Medicine
Subjects:
blepharophimosis
ptosis
developmental delay
TRAF7 variants
facial features
dysmorphic features
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2021.708717/full

Internet

https://www.frontiersin.org/articles/10.3389/fmed.2021.708717/full

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