Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A

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DOI
10.1016/j.ajhg.2021.04.001
Published
2021 May 6
Container
American journal of human genetics
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1016/j.ajhg.2021.04.001,
  title = {Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.},
  author = {Voisin N and Schnur RE and Douzgou S and Hiatt SM and Rustad CF and Brown NJ and Earl DL and Keren B and Levchenko O and Geuer S and Verheyen S and Johnson D and Zarate YA and Hančárová M and Amor DJ and Bebin EM and Blatterer J and Brusco A and Cappuccio G and Charrow J and Chatron N and Cooper GM and Courtin T and Dadali E and Delafontaine J and Del Giudice E and Doco M and Douglas G and Eisenkölbl A and Funari T and Giannuzzi G and Gruber-Sedlmayr U and Guex N and Heron D and Holla ØL and Hurst ACE and Juusola J and Kronn D and Lavrov A and Lee C and Lorrain S and Merckoll E and Mikhaleva A and Norman J and Pradervand S and Prchalová D and Rhodes L and Sanders VR and Sedláček Z and Seebacher HA and Sellars EA and Sirchia F and Takenouchi T and Tanaka AJ and Taska-Tench H and Tønne E and Tveten K and Vitiello G and Vlčková M and Uehara T and Nava C and Yalcin B and Kosaki K and Donnai D and Mundlos S and Brunetti-Pierri N and Chung WK and Reymond A},
  year = {2021},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2021.04.001},
  url = {https://doi.org/10.1016/j.ajhg.2021.04.001}
}

RIS

TY  - JOUR
TI  - Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
AU  - Voisin N
AU  - Schnur RE
AU  - Douzgou S
AU  - Hiatt SM
AU  - Rustad CF
AU  - Brown NJ
AU  - Earl DL
AU  - Keren B
AU  - Levchenko O
AU  - Geuer S
AU  - Verheyen S
AU  - Johnson D
AU  - Zarate YA
AU  - Hančárová M
AU  - Amor DJ
AU  - Bebin EM
AU  - Blatterer J
AU  - Brusco A
AU  - Cappuccio G
AU  - Charrow J
AU  - Chatron N
AU  - Cooper GM
AU  - Courtin T
AU  - Dadali E
AU  - Delafontaine J
AU  - Del Giudice E
AU  - Doco M
AU  - Douglas G
AU  - Eisenkölbl A
AU  - Funari T
AU  - Giannuzzi G
AU  - Gruber-Sedlmayr U
AU  - Guex N
AU  - Heron D
AU  - Holla ØL
AU  - Hurst ACE
AU  - Juusola J
AU  - Kronn D
AU  - Lavrov A
AU  - Lee C
AU  - Lorrain S
AU  - Merckoll E
AU  - Mikhaleva A
AU  - Norman J
AU  - Pradervand S
AU  - Prchalová D
AU  - Rhodes L
AU  - Sanders VR
AU  - Sedláček Z
AU  - Seebacher HA
AU  - Sellars EA
AU  - Sirchia F
AU  - Takenouchi T
AU  - Tanaka AJ
AU  - Taska-Tench H
AU  - Tønne E
AU  - Tveten K
AU  - Vitiello G
AU  - Vlčková M
AU  - Uehara T
AU  - Nava C
AU  - Yalcin B
AU  - Kosaki K
AU  - Donnai D
AU  - Mundlos S
AU  - Brunetti-Pierri N
AU  - Chung WK
AU  - Reymond A
PY  - 2021
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2021.04.001
UR  - https://doi.org/10.1016/j.ajhg.2021.04.001
ER  -

APA

N, V., RE, S., S, D., SM, H., CF, R., NJ, B., DL, E., B, K., O, L., S, G., S, V., D, J., YA, Z., M, H., DJ, A., EM, B., J, B., A, B., G, C., J, C., N, C., GM, C., T, C., E, D., J, D., E, D. G., M, D., G, D., A, E., T, F., G, G., U, G., N, G., D, H., ØL, H., ACE, H., J, J., D, K., A, L., C, L., S, L., E, M., A, M., J, N., S, P., D, P., L, R., VR, S., Z, S., HA, S., EA, S., F, S., T, T., AJ, T., H, T., E, T., K, T., G, V., M, V., T, U., C, N., B, Y., K, K., D, D., S, M., N, B., WK, C., & A, R. (2021). Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2021.04.001

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