Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation family

Haplo‐insufficiency of the TGFβ‐activated kinase 1 binding protein 2 (TAB2) gene is associated with short stature, facial dysmorphisms, connective tissue abnormalities, hearing loss, and cardiac disease. Skeletal dysplasia and sacral dimples are also found in a minority of patients. Here, we describ...

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Detalles Bibliográficos
Autores principales: Koene, Saskia, Klerx‐Melis, Floortje, Roest, Arno Anne Willem, Kleijwegt, Maarten Cornelis, Bootsma, Marianne, Haak, Monique C., van Haeringen, Meike Heleen, Ruivenkamp, Claudia Antoinette Laetitia, Nibbeling, Esther Anne Rieky, van Haeringen, Arie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804761/
https://www.ncbi.nlm.nih.gov/pubmed/36000780
http://dx.doi.org/10.1002/ajmg.a.62929

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804761/
https://www.ncbi.nlm.nih.gov/pubmed/36000780
http://dx.doi.org/10.1002/ajmg.a.62929

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