MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J

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DOI: 10.1007/s10048-018-0541-0
Published: 2018 May
Container: Neurogenetics
Publisher: Not recorded
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1007/s10048-018-0541-0,
  title = {MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.},
  author = {Smol T and Petit F and Piton A and Keren B and Sanlaville D and Afenjar A and Baker S and Bedoukian EC and Bhoj EJ and Bonneau D and Boudry-Labis E and Bouquillon S and Boute-Benejean O and Caumes R and Chatron N and Colson C and Coubes C and Coutton C and Devillard F and Dieux-Coeslier A and Doco-Fenzy M and Ewans LJ and Faivre L and Fassi E and Field M and Fournier C and Francannet C and Genevieve D and Giurgea I and Goldenberg A and Green AK and Guerrot AM and Heron D and Isidor B and Keena BA and Krock BL and Kuentz P and Lapi E and Le Meur N and Lesca G and Li D and Marey I and Mignot C and Nava C and Nesbitt A and Nicolas G and Roche-Lestienne C and Roscioli T and Satre V and Santani A and Stefanova M and Steinwall Larsen S and Saugier-Veber P and Picker-Minh S and Thuillier C and Verloes A and Vieville G and Wenzel M and Willems M and Whalen S and Zarate YA and Ziegler A and Manouvrier-Hanu S and Kalscheuer VM and Gerard B and Ghoumid J},
  year = {2018},
  journal = {Neurogenetics},
  doi = {10.1007/s10048-018-0541-0},
  url = {https://doi.org/10.1007/s10048-018-0541-0}
}

RIS

TY  - JOUR
TI  - MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
AU  - Smol T
AU  - Petit F
AU  - Piton A
AU  - Keren B
AU  - Sanlaville D
AU  - Afenjar A
AU  - Baker S
AU  - Bedoukian EC
AU  - Bhoj EJ
AU  - Bonneau D
AU  - Boudry-Labis E
AU  - Bouquillon S
AU  - Boute-Benejean O
AU  - Caumes R
AU  - Chatron N
AU  - Colson C
AU  - Coubes C
AU  - Coutton C
AU  - Devillard F
AU  - Dieux-Coeslier A
AU  - Doco-Fenzy M
AU  - Ewans LJ
AU  - Faivre L
AU  - Fassi E
AU  - Field M
AU  - Fournier C
AU  - Francannet C
AU  - Genevieve D
AU  - Giurgea I
AU  - Goldenberg A
AU  - Green AK
AU  - Guerrot AM
AU  - Heron D
AU  - Isidor B
AU  - Keena BA
AU  - Krock BL
AU  - Kuentz P
AU  - Lapi E
AU  - Le Meur N
AU  - Lesca G
AU  - Li D
AU  - Marey I
AU  - Mignot C
AU  - Nava C
AU  - Nesbitt A
AU  - Nicolas G
AU  - Roche-Lestienne C
AU  - Roscioli T
AU  - Satre V
AU  - Santani A
AU  - Stefanova M
AU  - Steinwall Larsen S
AU  - Saugier-Veber P
AU  - Picker-Minh S
AU  - Thuillier C
AU  - Verloes A
AU  - Vieville G
AU  - Wenzel M
AU  - Willems M
AU  - Whalen S
AU  - Zarate YA
AU  - Ziegler A
AU  - Manouvrier-Hanu S
AU  - Kalscheuer VM
AU  - Gerard B
AU  - Ghoumid J
PY  - 2018
JO  - Neurogenetics
DO  - 10.1007/s10048-018-0541-0
UR  - https://doi.org/10.1007/s10048-018-0541-0
ER  -

APA

T, S., F, P., A, P., B, K., D, S., A, A., S, B., EC, B., EJ, B., D, B., E, B., S, B., O, B., R, C., N, C., C, C., C, C., C, C., F, D., A, D., M, D., LJ, E., L, F., E, F., M, F., C, F., C, F., D, G., I, G., A, G., AK, G., AM, G., D, H., B, I., BA, K., BL, K., P, K., E, L., N, L. M., G, L., D, L., I, M., C, M., C, N., A, N., G, N., C, R., T, R., V, S., A, S., M, S., S, S. L., P, S., S, P., C, T., A, V., G, V., M, W., M, W., S, W., YA, Z., A, Z., S, M., VM, K., B, G., & J, G. (2018). MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.. Neurogenetics. https://doi.org/10.1007/s10048-018-0541-0

Source records

pubmed · retrieved 2026-09-26T11:28:56.858Z