Polyendocrinopathy, deafness and albinism, a new combination syndrome

Polyendocrinopathy, deafness and albinism, a new combination syndrome

Background: Waardenburg syndrome is a rare genetic disorder with distinct characteristics. Since their discovery, some types of WS have been reported only once. Type 2F, the subject of this article, has only eleven reported cases worldwide. Case Presentation: In this article, we report a 15-year-old...

Full description

Saved in:
Bibliographic Details
Main Authors: Isaq A. AlMughaizel, Abdulhameed A. Al-Bunyan, Yassin M. Al-saleh, Eman S. AlMoosa, Manal M. Al-Shawi, Yaqoub Y. AlMousa, Fatimah M. AlJishi
Format: Article
Language:English
Published: Discover STM Publishing Ltd 2024-02-01
Series:Journal of Biochemical and Clinical Genetics
Subjects:
waardenburg syndrome
type 2f
albinism
deafness
type 1 dm
short stature
absent female genital organs
hypergonadotropic hypogonadism
kitlg gene
Online Access:https://www.jbcgenetics.com/?mno=194057
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://www.jbcgenetics.com/?mno=194057

Similar Items