Loss-of-function variants in ADAMTS6: A new connective tissue disorder with heart defect, aortic aneurysm, and neurodevelopmental features.

Huguet Herrero J, Arnaud P, Bibimbou A, Seifert DE, Mougin Z, Benarroch L, Michot C, Capri Y, Ruaud L, Dupuis-Girod S, Guilhem A, Beyler C, Bajolle F, Milleron O, Jondeau G, Hanna N, Reinhardt DP, Guo DC, Milewicz D, Boileau C, Aubart M, Mead TJ, Le Goff C

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DOI: 10.1016/j.gim.2026.102741
Published: 2026 Oct 3
Container: Genetics in medicine : official journal of the American College of Medical Genetics
Publisher: Not recorded
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.gim.2026.102741,
  title = {Loss-of-function variants in ADAMTS6: A new connective tissue disorder with heart defect, aortic aneurysm, and neurodevelopmental features.},
  author = {Huguet Herrero J and Arnaud P and Bibimbou A and Seifert DE and Mougin Z and Benarroch L and Michot C and Capri Y and Ruaud L and Dupuis-Girod S and Guilhem A and Beyler C and Bajolle F and Milleron O and Jondeau G and Hanna N and Reinhardt DP and Guo DC and Milewicz D and Boileau C and Aubart M and Mead TJ and Le Goff C},
  year = {2026},
  journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
  doi = {10.1016/j.gim.2026.102741},
  url = {https://doi.org/10.1016/j.gim.2026.102741}
}

RIS

TY  - JOUR
TI  - Loss-of-function variants in ADAMTS6: A new connective tissue disorder with heart defect, aortic aneurysm, and neurodevelopmental features.
AU  - Huguet Herrero J
AU  - Arnaud P
AU  - Bibimbou A
AU  - Seifert DE
AU  - Mougin Z
AU  - Benarroch L
AU  - Michot C
AU  - Capri Y
AU  - Ruaud L
AU  - Dupuis-Girod S
AU  - Guilhem A
AU  - Beyler C
AU  - Bajolle F
AU  - Milleron O
AU  - Jondeau G
AU  - Hanna N
AU  - Reinhardt DP
AU  - Guo DC
AU  - Milewicz D
AU  - Boileau C
AU  - Aubart M
AU  - Mead TJ
AU  - Le Goff C
PY  - 2026
JO  - Genetics in medicine : official journal of the American College of Medical Genetics
DO  - 10.1016/j.gim.2026.102741
UR  - https://doi.org/10.1016/j.gim.2026.102741
ER  -

APA

J, H. H., P, A., A, B., DE, S., Z, M., L, B., C, M., Y, C., L, R., S, D., A, G., C, B., F, B., O, M., G, J., N, H., DP, R., DC, G., D, M., C, B., M, A., TJ, M., & C, L. G. (2026). Loss-of-function variants in ADAMTS6: A new connective tissue disorder with heart defect, aortic aneurysm, and neurodevelopmental features.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2026.102741

Source records

pubmed · retrieved 2026-11-10T12:41:42.557Z