Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

Voigt C, Mégarbané A, Neveling K, Czeschik JC, Albrecht B, Callewaert B, von Deimling F, Hehr A, Falkenberg Smeland M, König R, Kuechler A, Marcelis C, Puiu M, Reardon W, Riise Stensland HM, Schweiger B, Steehouwer M, Teller C, Martin M, Rahmann S, Hehr U, Brunner HG, Lüdecke HJ, Wieczorek D

Open source

DOI: 10.1186/1750-1172-8-110
Published: 2013 Jul 24
Container: Orphanet journal of rare diseases
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1186/1750-1172-8-110,
  title = {Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.},
  author = {Voigt C and Mégarbané A and Neveling K and Czeschik JC and Albrecht B and Callewaert B and von Deimling F and Hehr A and Falkenberg Smeland M and König R and Kuechler A and Marcelis C and Puiu M and Reardon W and Riise Stensland HM and Schweiger B and Steehouwer M and Teller C and Martin M and Rahmann S and Hehr U and Brunner HG and Lüdecke HJ and Wieczorek D},
  year = {2013},
  journal = {Orphanet journal of rare diseases},
  doi = {10.1186/1750-1172-8-110},
  url = {https://doi.org/10.1186/1750-1172-8-110}
}

RIS

TY  - JOUR
TI  - Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
AU  - Voigt C
AU  - Mégarbané A
AU  - Neveling K
AU  - Czeschik JC
AU  - Albrecht B
AU  - Callewaert B
AU  - von Deimling F
AU  - Hehr A
AU  - Falkenberg Smeland M
AU  - König R
AU  - Kuechler A
AU  - Marcelis C
AU  - Puiu M
AU  - Reardon W
AU  - Riise Stensland HM
AU  - Schweiger B
AU  - Steehouwer M
AU  - Teller C
AU  - Martin M
AU  - Rahmann S
AU  - Hehr U
AU  - Brunner HG
AU  - Lüdecke HJ
AU  - Wieczorek D
PY  - 2013
JO  - Orphanet journal of rare diseases
DO  - 10.1186/1750-1172-8-110
UR  - https://doi.org/10.1186/1750-1172-8-110
ER  -

APA

C, V., A, M., K, N., JC, C., B, A., B, C., F, V. D., A, H., M, F. S., R, K., A, K., C, M., M, P., W, R., HM, R. S., B, S., M, S., C, T., M, M., S, R., U, H., HG, B., HJ, L., & D, W. (2013). Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.. Orphanet journal of rare diseases. https://doi.org/10.1186/1750-1172-8-110

Source records

pubmed · retrieved 2026-09-26T00:15:26.267Z