Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum

Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum

Birk–Landau–Perez syndrome (BILAPES) is an autosomal recessive cerebro-renal syndrome associated with genetic defects in the SLC30A9 gene, initially reported in 2017 in six individuals belonging to a large Bedouin kindred. The SLC30A9 gene encodes a putative mitochondrial zinc transporter with ubiqu...

Full description

Bibliographic Details
Main Authors: Praseetha Kizhakkedath, Watfa AlDhaheri, Ibrahim Baydoun, Mohammed Tabouni, Anne John, Taleb M. Almansoori, Saeed Al-Turki, Fatma Al-Jasmi, Hiba Alblooshi
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Genetics
Subjects:
hyperechogenic kidneys
ataxia
oculomotor apraxia
developmental regression
tubulointerstitial nephritis
zinc transporter
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1219514/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1219514/full

Similar Items