Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2004 Jul;38(1):88-9.
doi: 10.1002/ppul.30001.

PCD and RP: X-linked inheritance of both disorders?

Maciej R Krawczyński  1 , Michał Witt
Affiliations
Case Reports

PCD and RP: X-linked inheritance of both disorders?

Maciej R Krawczyński et al. Pediatr Pulmonol. 2004 Jul.

Abstract

A Caucasian, seven-generation family of Polish origin with apparently X-linked inheritance of coexisting retinitis pigmentosa (RP) and primary ciliary dyskinesia (PCD), with 14 identified males affected with RP and 14 obligate healthy female carriers, is presented. To our knowledge, four of the RP-affected males were diagnosed with PCD. The cases might imply the presence of one of the PCD loci, influencing neither laterality nor fertility, within the X-chromosome.

PubMed Disclaimer

Publication types

LinkOut - more resources