Rauch-Steindl syndrome: intrauterine phenotype and diagnostic utility of prenatal exome sequencing.

Rijo C, Carocha A, Freire I, Martins A, Sá MJ, Venâncio M, Cohen Á

DOI: 10.1136/bcr-2026-274853
Published: 2026 Sep 17
Container: BMJ case reports
Publisher: Not recorded
Open access: no

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Cite this work

BibTeX

@article{allodium:10.1136/bcr-2026-274853,
  title = {Rauch-Steindl syndrome: intrauterine phenotype and diagnostic utility of prenatal exome sequencing.},
  author = {Rijo C and Carocha A and Freire I and Martins A and Sá MJ and Venâncio M and Cohen Á},
  year = {2026},
  journal = {BMJ case reports},
  doi = {10.1136/bcr-2026-274853},
  url = {https://doi.org/10.1136/bcr-2026-274853}
}

RIS

TY  - JOUR
TI  - Rauch-Steindl syndrome: intrauterine phenotype and diagnostic utility of prenatal exome sequencing.
AU  - Rijo C
AU  - Carocha A
AU  - Freire I
AU  - Martins A
AU  - Sá MJ
AU  - Venâncio M
AU  - Cohen Á
PY  - 2026
JO  - BMJ case reports
DO  - 10.1136/bcr-2026-274853
UR  - https://doi.org/10.1136/bcr-2026-274853
ER  -

APA

C, R., A, C., I, F., A, M., MJ, S., M, V., & Á, C. (2026). Rauch-Steindl syndrome: intrauterine phenotype and diagnostic utility of prenatal exome sequencing.. BMJ case reports. https://doi.org/10.1136/bcr-2026-274853

Source records

pubmed · retrieved 2026-09-25T10:48:42.121Z
europe-pmc · retrieved 2026-09-25T10:48:42.109Z