Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy
Praisy Joy, Sangeetha Yoganathan, Sophy Korula, S. Abraham, Anitha Barney, Vrisha Madhuri Walter, Sridhar Gibikote, Sumita Danda
Abstract
The authors declare no potential conflict of interest. The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions. FIGURE S1 The location of mutation in TBXAS1 gene. The homozygous missense variant c.1238G>A(NM_001130966.2; p.Arg413Gln) present in Exon 15 is shown by a single peak in the chromatogram of the proband. Overlapping peaks that are seen in the father and mother indicate the heterozygous state of the variant, confirming their carrier status Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.