HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk HM, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM, Tatton-Brown K

Open source

DOI: 10.1002/ajmg.a.61321
Published: 2019 Oct
Container: American journal of medical genetics. Part A
Publisher: Not recorded
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1002/ajmg.a.61321,
  title = {HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.},
  author = {Burkardt DD and Zachariou A and Loveday C and Allen CL and Amor DJ and Ardissone A and Banka S and Bourgois A and Coubes C and Cytrynbaum C and Faivre L and Marion G and Horton R and Kotzot D and Lay-Son G and Lees M and Low K and Luk HM and Mark P and McConkie-Rosell A and McDonald M and Pappas J and Phillipe C and Shears D and Skotko B and Stewart F and Stewart H and Temple IK and Mau-Them FT and Verdugo RA and Weksberg R and Zarate YA and Graham JM and Tatton-Brown K},
  year = {2019},
  journal = {American journal of medical genetics. Part A},
  doi = {10.1002/ajmg.a.61321},
  url = {https://doi.org/10.1002/ajmg.a.61321}
}

RIS

TY  - JOUR
TI  - HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
AU  - Burkardt DD
AU  - Zachariou A
AU  - Loveday C
AU  - Allen CL
AU  - Amor DJ
AU  - Ardissone A
AU  - Banka S
AU  - Bourgois A
AU  - Coubes C
AU  - Cytrynbaum C
AU  - Faivre L
AU  - Marion G
AU  - Horton R
AU  - Kotzot D
AU  - Lay-Son G
AU  - Lees M
AU  - Low K
AU  - Luk HM
AU  - Mark P
AU  - McConkie-Rosell A
AU  - McDonald M
AU  - Pappas J
AU  - Phillipe C
AU  - Shears D
AU  - Skotko B
AU  - Stewart F
AU  - Stewart H
AU  - Temple IK
AU  - Mau-Them FT
AU  - Verdugo RA
AU  - Weksberg R
AU  - Zarate YA
AU  - Graham JM
AU  - Tatton-Brown K
PY  - 2019
JO  - American journal of medical genetics. Part A
DO  - 10.1002/ajmg.a.61321
UR  - https://doi.org/10.1002/ajmg.a.61321
ER  -

APA

DD, B., A, Z., C, L., CL, A., DJ, A., A, A., S, B., A, B., C, C., C, C., L, F., G, M., R, H., D, K., G, L., M, L., K, L., HM, L., P, M., A, M., M, M., J, P., C, P., D, S., B, S., F, S., H, S., IK, T., FT, M., RA, V., R, W., YA, Z., JM, G., & K, T. (2019). HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.. American journal of medical genetics. Part A. https://doi.org/10.1002/ajmg.a.61321

Source records

pubmed · retrieved 2026-09-26T16:13:37.280Z