Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED).

Sezer A, Quinodoz M, Li B, Korf BR, Palazzo FM, Taşdelen E, Öz M, Kaptan Z, Maniyar A, Chandler K, Bonafé L, Rivolta C, Cohn DH, Superti-Furga A.

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DOI: 10.1002/ajmg.a.70243
Published: 2026-07-06
Container: Am J Med Genet A
Publisher: Not recorded
Open access: no

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Cite this work

BibTeX

@article{allodium:10.1002/ajmg.a.70243,
  title = {Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED).},
  author = {Sezer A and  Quinodoz M and  Li B and  Korf BR and  Palazzo FM and  Taşdelen E and  Öz M and  Kaptan Z and  Maniyar A and  Chandler K and  Bonafé L and  Rivolta C and  Cohn DH and  Superti-Furga A.},
  year = {2026},
  journal = {Am J Med Genet A},
  doi = {10.1002/ajmg.a.70243},
  url = {https://doi.org/10.1002/ajmg.a.70243}
}

RIS

TY  - JOUR
TI  - Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED).
AU  - Sezer A
AU  -  Quinodoz M
AU  -  Li B
AU  -  Korf BR
AU  -  Palazzo FM
AU  -  Taşdelen E
AU  -  Öz M
AU  -  Kaptan Z
AU  -  Maniyar A
AU  -  Chandler K
AU  -  Bonafé L
AU  -  Rivolta C
AU  -  Cohn DH
AU  -  Superti-Furga A.
PY  - 2026
JO  - Am J Med Genet A
DO  - 10.1002/ajmg.a.70243
UR  - https://doi.org/10.1002/ajmg.a.70243
ER  -

APA

A, S., M, Q., B, L., BR, K., FM, P., E, T., M, Ö., Z, K., A, M., K, C., L, B., C, R., DH, C., & A., S. (2026). Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED).. Am J Med Genet A. https://doi.org/10.1002/ajmg.a.70243

Source records

europe-pmc · retrieved 2026-09-26T02:08:35.230Z