First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum.

Thamissarakul S, Boonswang T, Lertsakulbunlue S, Khumsui S, Boonyawat B

DOI: 10.1155/crig/9550632
Published: 2026
Container: Case reports in genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1155/crig/9550632,
  title = {First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum.},
  author = {Thamissarakul S and Boonswang T and Lertsakulbunlue S and Khumsui S and Boonyawat B},
  year = {2026},
  journal = {Case reports in genetics},
  doi = {10.1155/crig/9550632},
  url = {https://doi.org/10.1155/crig/9550632}
}

RIS

TY  - JOUR
TI  - First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum.
AU  - Thamissarakul S
AU  - Boonswang T
AU  - Lertsakulbunlue S
AU  - Khumsui S
AU  - Boonyawat B
PY  - 2026
JO  - Case reports in genetics
DO  - 10.1155/crig/9550632
UR  - https://doi.org/10.1155/crig/9550632
ER  -

APA

S, T., T, B., S, L., S, K., & B, B. (2026). First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum.. Case reports in genetics. https://doi.org/10.1155/crig/9550632

Source records

pubmed · retrieved 2026-09-25T19:43:05.301Z