Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PC, Ramalho de Lima A, Ferreira BM, Coban-Akdemir Z, White J, Shears D, Thomson FR, Douglas SL, Wainwright A, Bailey K, Wordsworth P, Oldridge M, Lester T, Calder AD, Dumic K, Banka S, Donnai D, Jhangiani SN, Potocki L, Chung WK, Mora S, Northrup H, Ashfaq M, Rosenfeld JA, Mason K, Pollack LC, McConkie-Rosell A, Kelly W, McDonald M, Hauser NS, Leahy P, Powell CM, Boy R, Honjo RS, Kok F, Martelli LR, Filho VO, Genomics England Research Consortium, Muzny DM, Gibbs RA, Posey JE, Liu P, Lupski JR, Sutton VR, Carvalho CMB

Open source

DOI
10.1016/j.xhgg.2021.100074
Published
2022 Jan 13
Container
HGG advances
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1016/j.xhgg.2021.100074,
  title = {Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.},
  author = {Zhang C and Jolly A and Shayota BJ and Mazzeu JF and Du H and Dawood M and Soper PC and Ramalho de Lima A and Ferreira BM and Coban-Akdemir Z and White J and Shears D and Thomson FR and Douglas SL and Wainwright A and Bailey K and Wordsworth P and Oldridge M and Lester T and Calder AD and Dumic K and Banka S and Donnai D and Jhangiani SN and Potocki L and Chung WK and Mora S and Northrup H and Ashfaq M and Rosenfeld JA and Mason K and Pollack LC and McConkie-Rosell A and Kelly W and McDonald M and Hauser NS and Leahy P and Powell CM and Boy R and Honjo RS and Kok F and Martelli LR and Filho VO and Genomics England Research Consortium and Muzny DM and Gibbs RA and Posey JE and Liu P and Lupski JR and Sutton VR and Carvalho CMB},
  year = {2022},
  journal = {HGG advances},
  doi = {10.1016/j.xhgg.2021.100074},
  url = {https://doi.org/10.1016/j.xhgg.2021.100074}
}

RIS

TY  - JOUR
TI  - Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
AU  - Zhang C
AU  - Jolly A
AU  - Shayota BJ
AU  - Mazzeu JF
AU  - Du H
AU  - Dawood M
AU  - Soper PC
AU  - Ramalho de Lima A
AU  - Ferreira BM
AU  - Coban-Akdemir Z
AU  - White J
AU  - Shears D
AU  - Thomson FR
AU  - Douglas SL
AU  - Wainwright A
AU  - Bailey K
AU  - Wordsworth P
AU  - Oldridge M
AU  - Lester T
AU  - Calder AD
AU  - Dumic K
AU  - Banka S
AU  - Donnai D
AU  - Jhangiani SN
AU  - Potocki L
AU  - Chung WK
AU  - Mora S
AU  - Northrup H
AU  - Ashfaq M
AU  - Rosenfeld JA
AU  - Mason K
AU  - Pollack LC
AU  - McConkie-Rosell A
AU  - Kelly W
AU  - McDonald M
AU  - Hauser NS
AU  - Leahy P
AU  - Powell CM
AU  - Boy R
AU  - Honjo RS
AU  - Kok F
AU  - Martelli LR
AU  - Filho VO
AU  - Genomics England Research Consortium
AU  - Muzny DM
AU  - Gibbs RA
AU  - Posey JE
AU  - Liu P
AU  - Lupski JR
AU  - Sutton VR
AU  - Carvalho CMB
PY  - 2022
JO  - HGG advances
DO  - 10.1016/j.xhgg.2021.100074
UR  - https://doi.org/10.1016/j.xhgg.2021.100074
ER  -

APA

C, Z., A, J., BJ, S., JF, M., H, D., M, D., PC, S., A, R. D. L., BM, F., Z, C., J, W., D, S., FR, T., SL, D., A, W., K, B., P, W., M, O., T, L., AD, C., K, D., S, B., D, D., SN, J., L, P., WK, C., S, M., H, N., M, A., JA, R., K, M., LC, P., A, M., W, K., M, M., NS, H., P, L., CM, P., R, B., RS, H., F, K., LR, M., VO, F., Consortium, G. E. R., DM, M., RA, G., JE, P., P, L., JR, L., VR, S., & CMB, C. (2022). Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.. HGG advances. https://doi.org/10.1016/j.xhgg.2021.100074

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