Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P, Undiagnosed Diseases Network, Rush E, Pitt GS, Au PYB, Shashi V

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DOI: 10.1038/s41436-021-01232-8
Published: 2021 Oct
Container: Genetics in medicine : official journal of the American College of Medical Genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1038/s41436-021-01232-8,
  title = {Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.},
  author = {Rodan LH and Spillmann RC and Kurata HT and Lamothe SM and Maghera J and Jamra RA and Alkelai A and Antonarakis SE and Atallah I and Bar-Yosef O and Bilan F and Bjorgo K and Blanc X and Van Bogaert P and Bolkier Y and Burrage LC and Christ BU and Granadillo JL and Dickson P and Donald KA and Dubourg C and Eliyahu A and Emrick L and Engleman K and Gonfiantini MV and Good JM and Kalser J and Kloeckner C and Lachmeijer G and Macchiaiolo M and Nicita F and Odent S and O'Heir E and Ortiz-Gonzalez X and Pacio-Miguez M and Palomares-Bralo M and Pena L and Platzer K and Quinodoz M and Ranza E and Rosenfeld JA and Roulet-Perez E and Santani A and Santos-Simarro F and Pode-Shakked B and Skraban C and Slaugh R and Superti-Furga A and Thiffault I and van Jaabrsveld RH and Vincent M and Wang HG and Zacher P and Undiagnosed Diseases Network and Rush E and Pitt GS and Au PYB and Shashi V},
  year = {2021},
  journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
  doi = {10.1038/s41436-021-01232-8},
  url = {https://doi.org/10.1038/s41436-021-01232-8}
}

RIS

TY  - JOUR
TI  - Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
AU  - Rodan LH
AU  - Spillmann RC
AU  - Kurata HT
AU  - Lamothe SM
AU  - Maghera J
AU  - Jamra RA
AU  - Alkelai A
AU  - Antonarakis SE
AU  - Atallah I
AU  - Bar-Yosef O
AU  - Bilan F
AU  - Bjorgo K
AU  - Blanc X
AU  - Van Bogaert P
AU  - Bolkier Y
AU  - Burrage LC
AU  - Christ BU
AU  - Granadillo JL
AU  - Dickson P
AU  - Donald KA
AU  - Dubourg C
AU  - Eliyahu A
AU  - Emrick L
AU  - Engleman K
AU  - Gonfiantini MV
AU  - Good JM
AU  - Kalser J
AU  - Kloeckner C
AU  - Lachmeijer G
AU  - Macchiaiolo M
AU  - Nicita F
AU  - Odent S
AU  - O'Heir E
AU  - Ortiz-Gonzalez X
AU  - Pacio-Miguez M
AU  - Palomares-Bralo M
AU  - Pena L
AU  - Platzer K
AU  - Quinodoz M
AU  - Ranza E
AU  - Rosenfeld JA
AU  - Roulet-Perez E
AU  - Santani A
AU  - Santos-Simarro F
AU  - Pode-Shakked B
AU  - Skraban C
AU  - Slaugh R
AU  - Superti-Furga A
AU  - Thiffault I
AU  - van Jaabrsveld RH
AU  - Vincent M
AU  - Wang HG
AU  - Zacher P
AU  - Undiagnosed Diseases Network
AU  - Rush E
AU  - Pitt GS
AU  - Au PYB
AU  - Shashi V
PY  - 2021
JO  - Genetics in medicine : official journal of the American College of Medical Genetics
DO  - 10.1038/s41436-021-01232-8
UR  - https://doi.org/10.1038/s41436-021-01232-8
ER  -

APA

LH, R., RC, S., HT, K., SM, L., J, M., RA, J., A, A., SE, A., I, A., O, B., F, B., K, B., X, B., P, V. B., Y, B., LC, B., BU, C., JL, G., P, D., KA, D., C, D., A, E., L, E., K, E., MV, G., JM, G., J, K., C, K., G, L., M, M., F, N., S, O., E, O., X, O., M, P., M, P., L, P., K, P., M, Q., E, R., JA, R., E, R., A, S., F, S., B, P., C, S., R, S., A, S., I, T., RH, V. J., M, V., HG, W., P, Z., Network, U. D., E, R., GS, P., PYB, A., & V, S. (2021). Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-021-01232-8

Source records

pubmed · retrieved 2026-09-25T19:57:29.257Z