The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP, Dodé C

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DOI: 10.1210/jc.2014-2110
Published: 2014 Oct
Container: The Journal of clinical endocrinology and metabolism
Publisher: Not recorded
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1210/jc.2014-2110,
  title = {The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.},
  author = {Marcos S and Sarfati J and Leroy C and Fouveaut C and Parent P and Metz C and Wolczynski S and Gérard M and Bieth E and Kurtz F and Verier-Mine O and Perrin L and Archambeaud F and Cabrol S and Rodien P and Hove H and Prescott T and Lacombe D and Christin-Maitre S and Touraine P and Hieronimus S and Dewailly D and Young J and Pugeat M and Hardelin JP and Dodé C},
  year = {2014},
  journal = {The Journal of clinical endocrinology and metabolism},
  doi = {10.1210/jc.2014-2110},
  url = {https://doi.org/10.1210/jc.2014-2110}
}

RIS

TY  - JOUR
TI  - The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
AU  - Marcos S
AU  - Sarfati J
AU  - Leroy C
AU  - Fouveaut C
AU  - Parent P
AU  - Metz C
AU  - Wolczynski S
AU  - Gérard M
AU  - Bieth E
AU  - Kurtz F
AU  - Verier-Mine O
AU  - Perrin L
AU  - Archambeaud F
AU  - Cabrol S
AU  - Rodien P
AU  - Hove H
AU  - Prescott T
AU  - Lacombe D
AU  - Christin-Maitre S
AU  - Touraine P
AU  - Hieronimus S
AU  - Dewailly D
AU  - Young J
AU  - Pugeat M
AU  - Hardelin JP
AU  - Dodé C
PY  - 2014
JO  - The Journal of clinical endocrinology and metabolism
DO  - 10.1210/jc.2014-2110
UR  - https://doi.org/10.1210/jc.2014-2110
ER  -

APA

S, M., J, S., C, L., C, F., P, P., C, M., S, W., M, G., E, B., F, K., O, V., L, P., F, A., S, C., P, R., H, H., T, P., D, L., S, C., P, T., S, H., D, D., J, Y., M, P., JP, H., & C, D. (2014). The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.. The Journal of clinical endocrinology and metabolism. https://doi.org/10.1210/jc.2014-2110

Source records

pubmed · retrieved 2026-09-25T19:47:47.781Z