Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A, Undiagnosed Diseases Network, Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E

Open source

DOI: 10.1038/s41431-023-01434-5
Published: 2023 Oct
Container: European journal of human genetics : EJHG
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1038/s41431-023-01434-5,
  title = {Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.},
  author = {Ganapathi M and Matsuoka LS and March M and Li D and Brokamp E and Benito-Sanz S and White SM and Lachlan K and Ahimaz P and Sewda A and Bastarache L and Thomas-Wilson A and Stoler JM and Bramswig NC and Baptista J and Stals K and Demurger F and Cogne B and Isidor B and Bedeschi MF and Peron A and Amiel J and Zackai E and Schacht JP and Iglesias AD and Morton J and Schmetz A and Undiagnosed Diseases Network and Seidel V and Lucia S and Baskin SM and Thiffault I and Cogan JD and Gordon CT and Chung WK and Bowdin S and Bhoj E},
  year = {2023},
  journal = {European journal of human genetics : EJHG},
  doi = {10.1038/s41431-023-01434-5},
  url = {https://doi.org/10.1038/s41431-023-01434-5}
}

RIS

TY  - JOUR
TI  - Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
AU  - Ganapathi M
AU  - Matsuoka LS
AU  - March M
AU  - Li D
AU  - Brokamp E
AU  - Benito-Sanz S
AU  - White SM
AU  - Lachlan K
AU  - Ahimaz P
AU  - Sewda A
AU  - Bastarache L
AU  - Thomas-Wilson A
AU  - Stoler JM
AU  - Bramswig NC
AU  - Baptista J
AU  - Stals K
AU  - Demurger F
AU  - Cogne B
AU  - Isidor B
AU  - Bedeschi MF
AU  - Peron A
AU  - Amiel J
AU  - Zackai E
AU  - Schacht JP
AU  - Iglesias AD
AU  - Morton J
AU  - Schmetz A
AU  - Undiagnosed Diseases Network
AU  - Seidel V
AU  - Lucia S
AU  - Baskin SM
AU  - Thiffault I
AU  - Cogan JD
AU  - Gordon CT
AU  - Chung WK
AU  - Bowdin S
AU  - Bhoj E
PY  - 2023
JO  - European journal of human genetics : EJHG
DO  - 10.1038/s41431-023-01434-5
UR  - https://doi.org/10.1038/s41431-023-01434-5
ER  -

APA

M, G., LS, M., M, M., D, L., E, B., S, B., SM, W., K, L., P, A., A, S., L, B., A, T., JM, S., NC, B., J, B., K, S., F, D., B, C., B, I., MF, B., A, P., J, A., E, Z., JP, S., AD, I., J, M., A, S., Network, U. D., V, S., S, L., SM, B., I, T., JD, C., CT, G., WK, C., S, B., & E, B. (2023). Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.. European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-023-01434-5

Source records

pubmed · retrieved 2026-09-26T02:12:12.036Z