Characterization of familial short stature with or without skeletal dysplasia in a Pakistani cohort reveals founder mutations as well as novel variants.
- DOI
- 10.1007/s00439-026-02883-w
- Published
- 2026 Oct 14
- Container
- Human genetics
- Publisher
- Not recorded
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1007/s00439-026-02883-w,
title = {Characterization of familial short stature with or without skeletal dysplasia in a Pakistani cohort reveals founder mutations as well as novel variants.},
author = {Ishaq T and Jawaid AR and Yasin S and Ain NU and Faryal A and Shaukat M and Noman M and Muhammad N and Iqbal M and Alzahrani F and Shafique A and Zulfiqar R and Kanwal A and Alkuraya FS and Wohler E and Sobreira N and Seo GH and Makitie O and Naz S},
year = {2026},
journal = {Human genetics},
doi = {10.1007/s00439-026-02883-w},
url = {https://doi.org/10.1007/s00439-026-02883-w}
}RIS
TY - JOUR TI - Characterization of familial short stature with or without skeletal dysplasia in a Pakistani cohort reveals founder mutations as well as novel variants. AU - Ishaq T AU - Jawaid AR AU - Yasin S AU - Ain NU AU - Faryal A AU - Shaukat M AU - Noman M AU - Muhammad N AU - Iqbal M AU - Alzahrani F AU - Shafique A AU - Zulfiqar R AU - Kanwal A AU - Alkuraya FS AU - Wohler E AU - Sobreira N AU - Seo GH AU - Makitie O AU - Naz S PY - 2026 JO - Human genetics DO - 10.1007/s00439-026-02883-w UR - https://doi.org/10.1007/s00439-026-02883-w ER -
APA
T, I., AR, J., S, Y., NU, A., A, F., M, S., M, N., N, M., M, I., F, A., A, S., R, Z., A, K., FS, A., E, W., N, S., GH, S., O, M., & S, N. (2026). Characterization of familial short stature with or without skeletal dysplasia in a Pakistani cohort reveals founder mutations as well as novel variants.. Human genetics. https://doi.org/10.1007/s00439-026-02883-w
Source records
- pubmed · retrieved 2026-11-10T10:23:44.354Z