| Autor: |
Das Bhowmik, Aneek, Salem Ramakumaran, Vijayalakshmi, Dalal, Ashwin |
| Zdroj: |
American Journal of Medical Genetics. Part A; Jan2018, Vol. 176 Issue 1, p219-224, 6p |
| Abstrakt: |
We report a family of Indian origin presenting with Tarsal-carpal coalition syndrome (TCC), which is a rare genetic disorder of skeletal abnormalities, inherited in autosomal dominant manner. In this family, three individuals (mother and two children) were found to be similarly affected with slight intrafamilial individual variability in the phenotype. Sanger sequencing revealed a novel heterozygous missense mutation in NOG gene (NM_005450.4:c.611G>A) in all the affected individuals of the family. Until now only six mutations have been reported in different families affected with TCC syndrome worldwide. This report further delineates the phenotypic spectrum of this rare disorder with the addition of a new variant to the mutation spectrum. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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