The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.

Hannah WB, DeBrosse S, Kinghorn B, Strausbaugh S, Aitken ML, Rosenfeld M, Wolf WE, Knowles MR, Zariwala MA

DOI: 10.1002/mgg3.911
Published: 2019 Sep
Container: Molecular genetics & genomic medicine
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1002/mgg3.911,
  title = {The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.},
  author = {Hannah WB and DeBrosse S and Kinghorn B and Strausbaugh S and Aitken ML and Rosenfeld M and Wolf WE and Knowles MR and Zariwala MA},
  year = {2019},
  journal = {Molecular genetics \& genomic medicine},
  doi = {10.1002/mgg3.911},
  url = {https://doi.org/10.1002/mgg3.911}
}

RIS

TY  - JOUR
TI  - The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.
AU  - Hannah WB
AU  - DeBrosse S
AU  - Kinghorn B
AU  - Strausbaugh S
AU  - Aitken ML
AU  - Rosenfeld M
AU  - Wolf WE
AU  - Knowles MR
AU  - Zariwala MA
PY  - 2019
JO  - Molecular genetics & genomic medicine
DO  - 10.1002/mgg3.911
UR  - https://doi.org/10.1002/mgg3.911
ER  -

APA

WB, H., S, D., B, K., S, S., ML, A., M, R., WE, W., MR, K., & MA, Z. (2019). The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.. Molecular genetics & genomic medicine. https://doi.org/10.1002/mgg3.911

Source records

pubmed · retrieved 2026-09-25T14:29:18.043Z