Publications:

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

Molecular Genetics & Genomic Medicine

Hannah, William B WB; DeBrosse, Suzanne S; Kinghorn, BreAnna B; Strausbaugh, Steven S; Aitken, Moira L ML; Rosenfeld, Margaret M; Wolf, Whitney E WE; Knowles, Michael R MR; Zariwala, Maimoona A MA

Publication Date: 2019-09

Variant appearance in text: CFTR: 2862dupT

PubMed Link: 31373179

Variant Present in the following documents:

• Main text
• MGG3-7-e911.pdf

View BVdb publication page