Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism

Debora Tibbe, Marie Ronja Vogt, Tess Holling, Lea Dewi Schlieben, Fanny Kortüm, Moneef Shoukier, Christoph Bagowski, Felix Distelmaier, Luisa Averdunk, Alexej Knaus, Peter Krawitz, Alma Kuechler, Elke Lainka, Amelie Stalke, Sandra von Hardenberg, Bernd Auber, Eva-Doreen Pfister, Bruno Reversade, Anthony Sabbagh, Aida M. Bertoli-Avella, Salem Alawbathani, Elizabeth E. Palmer, Manisha Chauhan, Rocio Rius, Yoonji Kim, Dzhoy Papingi, Deborah Bartholdi, Dominique Braun, Oliver Maier, April Dinwiddie, Elisabeth Steichen-Gersdorf, Andreas R. Janecke, Anatoly Tiulpakov, Nikolay Zernov, Maria Izabel Arismendi, Alexander A.L. Jorge, Himanshu Goel, Lauren Dreyer, Lily Loughman, Holger Prokisch, Kerstin Borgmann, Kerstin Kutsche

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DOI: 10.1016/j.ajhg.2026.03.010
Published: 2026-05
Container: The American Journal of Human Genetics
Publisher: Elsevier BV
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2026.03.010,
  title = {Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism},
  author = {Debora Tibbe and Marie Ronja Vogt and Tess Holling and Lea Dewi Schlieben and Fanny Kortüm and Moneef Shoukier and Christoph Bagowski and Felix Distelmaier and Luisa Averdunk and Alexej Knaus and Peter Krawitz and Alma Kuechler and Elke Lainka and Amelie Stalke and Sandra von Hardenberg and Bernd Auber and Eva-Doreen Pfister and Bruno Reversade and Anthony Sabbagh and Aida M. Bertoli-Avella and Salem Alawbathani and Elizabeth E. Palmer and Manisha Chauhan and Rocio Rius and Yoonji Kim and Dzhoy Papingi and Deborah Bartholdi and Dominique Braun and Oliver Maier and April Dinwiddie and Elisabeth Steichen-Gersdorf and Andreas R. Janecke and Anatoly Tiulpakov and Nikolay Zernov and Maria Izabel Arismendi and Alexander A.L. Jorge and Himanshu Goel and Lauren Dreyer and Lily Loughman and Holger Prokisch and Kerstin Borgmann and Kerstin Kutsche},
  year = {2026},
  journal = {The American Journal of Human Genetics},
  doi = {10.1016/j.ajhg.2026.03.010},
  url = {https://doi.org/10.1016/j.ajhg.2026.03.010}
}

RIS

TY  - JOUR
TI  - Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism
AU  - Debora Tibbe
AU  - Marie Ronja Vogt
AU  - Tess Holling
AU  - Lea Dewi Schlieben
AU  - Fanny Kortüm
AU  - Moneef Shoukier
AU  - Christoph Bagowski
AU  - Felix Distelmaier
AU  - Luisa Averdunk
AU  - Alexej Knaus
AU  - Peter Krawitz
AU  - Alma Kuechler
AU  - Elke Lainka
AU  - Amelie Stalke
AU  - Sandra von Hardenberg
AU  - Bernd Auber
AU  - Eva-Doreen Pfister
AU  - Bruno Reversade
AU  - Anthony Sabbagh
AU  - Aida M. Bertoli-Avella
AU  - Salem Alawbathani
AU  - Elizabeth E. Palmer
AU  - Manisha Chauhan
AU  - Rocio Rius
AU  - Yoonji Kim
AU  - Dzhoy Papingi
AU  - Deborah Bartholdi
AU  - Dominique Braun
AU  - Oliver Maier
AU  - April Dinwiddie
AU  - Elisabeth Steichen-Gersdorf
AU  - Andreas R. Janecke
AU  - Anatoly Tiulpakov
AU  - Nikolay Zernov
AU  - Maria Izabel Arismendi
AU  - Alexander A.L. Jorge
AU  - Himanshu Goel
AU  - Lauren Dreyer
AU  - Lily Loughman
AU  - Holger Prokisch
AU  - Kerstin Borgmann
AU  - Kerstin Kutsche
PY  - 2026
JO  - The American Journal of Human Genetics
DO  - 10.1016/j.ajhg.2026.03.010
UR  - https://doi.org/10.1016/j.ajhg.2026.03.010
ER  -

APA

Tibbe, D., Vogt, M. R., Holling, T., Schlieben, L. D., Kortüm, F., Shoukier, M., Bagowski, C., Distelmaier, F., Averdunk, L., Knaus, A., Krawitz, P., Kuechler, A., Lainka, E., Stalke, A., Hardenberg, S. V., Auber, B., Pfister, E., Reversade, B., Sabbagh, A., Bertoli-Avella, A. M., Alawbathani, S., Palmer, E. E., Chauhan, M., Rius, R., Kim, Y., Papingi, D., Bartholdi, D., Braun, D., Maier, O., Dinwiddie, A., Steichen-Gersdorf, E., Janecke, A. R., Tiulpakov, A., Zernov, N., Arismendi, M. I., Jorge, A. A., Goel, H., Dreyer, L., Loughman, L., Prokisch, H., Borgmann, K., & Kutsche, K. (2026). Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2026.03.010

Source records

crossref · retrieved 2026-09-26T13:51:52.519Z