Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.

Radio FC, Tasca G, Coppens S, Chillemi G, Whalen S, Marey I, Leoni C, Onesimo R, Deconinck N, D'Amico A, Remiche G, Nascimento A, Ortez C, Jou C, Lecomte S, Falsini B, Ciolfi A, Ferilli M, Cappelletti C, Niceta M, Gowda VK, Srinivasan VM, Vahidi Mehrjardi MY, Dadbinpour A, Movahedinia M, Firoozfar Z, Alavi S, Alibakhshi R, Ghazinader D, Mojarrad M, Rajati M, Keren B, Bertini ES, Zampino G, Natera de Benito D, Maroofian R, Tartaglia M

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DOI: 10.1016/j.gim.2026.102558
Published: 2026 May
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.2026.102558,
  title = {Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.},
  author = {Radio FC and Tasca G and Coppens S and Chillemi G and Whalen S and Marey I and Leoni C and Onesimo R and Deconinck N and D'Amico A and Remiche G and Nascimento A and Ortez C and Jou C and Lecomte S and Falsini B and Ciolfi A and Ferilli M and Cappelletti C and Niceta M and Gowda VK and Srinivasan VM and Vahidi Mehrjardi MY and Dadbinpour A and Movahedinia M and Firoozfar Z and Alavi S and Alibakhshi R and Ghazinader D and Mojarrad M and Rajati M and Keren B and Bertini ES and Zampino G and Natera de Benito D and Maroofian R and Tartaglia M},
  year = {2026},
  journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
  doi = {10.1016/j.gim.2026.102558},
  url = {https://doi.org/10.1016/j.gim.2026.102558}
}

RIS

TY  - JOUR
TI  - Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.
AU  - Radio FC
AU  - Tasca G
AU  - Coppens S
AU  - Chillemi G
AU  - Whalen S
AU  - Marey I
AU  - Leoni C
AU  - Onesimo R
AU  - Deconinck N
AU  - D'Amico A
AU  - Remiche G
AU  - Nascimento A
AU  - Ortez C
AU  - Jou C
AU  - Lecomte S
AU  - Falsini B
AU  - Ciolfi A
AU  - Ferilli M
AU  - Cappelletti C
AU  - Niceta M
AU  - Gowda VK
AU  - Srinivasan VM
AU  - Vahidi Mehrjardi MY
AU  - Dadbinpour A
AU  - Movahedinia M
AU  - Firoozfar Z
AU  - Alavi S
AU  - Alibakhshi R
AU  - Ghazinader D
AU  - Mojarrad M
AU  - Rajati M
AU  - Keren B
AU  - Bertini ES
AU  - Zampino G
AU  - Natera de Benito D
AU  - Maroofian R
AU  - Tartaglia M
PY  - 2026
JO  - Genetics in medicine : official journal of the American College of Medical Genetics
DO  - 10.1016/j.gim.2026.102558
UR  - https://doi.org/10.1016/j.gim.2026.102558
ER  -

APA

FC, R., G, T., S, C., G, C., S, W., I, M., C, L., R, O., N, D., A, D., G, R., A, N., C, O., C, J., S, L., B, F., A, C., M, F., C, C., M, N., VK, G., VM, S., MY, V. M., A, D., M, M., Z, F., S, A., R, A., D, G., M, M., M, R., B, K., ES, B., G, Z., D, N. D. B., R, M., & M, T. (2026). Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2026.102558

Source records

pubmed · retrieved 2026-09-26T00:40:26.926Z