The expanding phenotype of OFD1 ‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia-Reference-Cited by-同舟云学术

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

Published:2019-08 Issue:9 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Hannah William B.¹²³^ORCID,DeBrosse Suzanne¹³,Kinghorn BreAnna⁴,Strausbaugh Steven²⁵,Aitken Moira L.⁶^ORCID,Rosenfeld Margaret⁴,Wolf Whitney E.⁷,Knowles Michael R.⁸,Zariwala Maimoona A.⁹^ORCID

Affiliation:

1. Center for Human Genetics University Hospitals Cleveland Medical Center Cleveland Ohio

2. Department of Internal Medicine University Hospitals Cleveland Medical Center Cleveland Ohio

3. Department of Genetics and Genome Sciences Case Western Reserve University Cleveland Ohio

4. Department of Pediatrics University of Washington School of Medicine Seattle Washington

5. Department of Pediatrics University Hospitals Cleveland Medical Center Cleveland Ohio

6. Department of Medicine University of Washington Seattle Washington

7. Department of Pharmacoengineering and Molecular Pharmaceutics, Eshelman School of Pharmacy University of North Carolina Chapel Hill North Carolina

8. Department of Medicine, Marsico Lung Institute University of North Carolina Chapel Hill North Carolina

9. Department of Pathology and Laboratory Medicine, Marsico Lung Institute University of North Carolina Chapel Hill North Carolina

Funder

National Heart, Lung, and Blood Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.911

Reference23 articles.

1. Mapping of a New SGBS Locus to Chromosome Xp22 in a Family with a Severe Form of Simpson-Golabi-Behmel Syndrome

2. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

3. OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

4. Identification of the Gene for Oral-Facial-Digital Type I Syndrome

5. Convergent extension movements and ciliary function are mediated by ofd1 , a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene

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