Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.

Strong A, McKenna C, Stals K, Vitobello A, Renaud M, Rieubland C, Guipponi M, Philippe C, Vrana P, Gaskell A, Innes AM, Rippert AL, Ahrens-Nicklas R, Bhoj E, Keller K, Chaudhari BP, Stone BS

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DOI: 10.1002/ajmg.a.64119
Published: 2025 Oct
Container: American journal of medical genetics. Part A
Publisher: Not recorded
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1002/ajmg.a.64119,
  title = {Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.},
  author = {Strong A and McKenna C and Stals K and Vitobello A and Renaud M and Rieubland C and Guipponi M and Philippe C and Vrana P and Gaskell A and Innes AM and Rippert AL and Ahrens-Nicklas R and Bhoj E and Keller K and Chaudhari BP and Stone BS},
  year = {2025},
  journal = {American journal of medical genetics. Part A},
  doi = {10.1002/ajmg.a.64119},
  url = {https://doi.org/10.1002/ajmg.a.64119}
}

RIS

TY  - JOUR
TI  - Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.
AU  - Strong A
AU  - McKenna C
AU  - Stals K
AU  - Vitobello A
AU  - Renaud M
AU  - Rieubland C
AU  - Guipponi M
AU  - Philippe C
AU  - Vrana P
AU  - Gaskell A
AU  - Innes AM
AU  - Rippert AL
AU  - Ahrens-Nicklas R
AU  - Bhoj E
AU  - Keller K
AU  - Chaudhari BP
AU  - Stone BS
PY  - 2025
JO  - American journal of medical genetics. Part A
DO  - 10.1002/ajmg.a.64119
UR  - https://doi.org/10.1002/ajmg.a.64119
ER  -

APA

A, S., C, M., K, S., A, V., M, R., C, R., M, G., C, P., P, V., A, G., AM, I., AL, R., R, A., E, B., K, K., BP, C., & BS, S. (2025). Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.. American journal of medical genetics. Part A. https://doi.org/10.1002/ajmg.a.64119

Source records

pubmed · retrieved 2026-09-27T10:10:27.375Z