| Autor: |
Koene, S., Klerx-Melis, F., Roest, A.A.W., Kleijwegt, M.C., Bootsma, M., Haak, M.C., Haeringen, M.H. van, Ruivenkamp, C.A.L., Nibbeling, E.A.R., Haeringen, A. van |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
American Journal of Medical Genetics Part A, 188(12), 3510-3515. WILEY |
| Popis: |
Haplo-insufficiency of the TGF beta-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 describe a 3-generation family with caudal appendage, other sacral anomalies, and skeletal abnormalities including hypoplasia of the iliac wings and scapulae, fusion of the carpal bones and stenosis of the spinal canal, as well as a remarkable course of prenatally-detected cardiomyopathy with characteristics changing over time. Genetic analysis showed a heterozygous nonsense variant in the TAB2 gene. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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