Two Cases With Neonatal Cholestasis and Renal Disorders Due to DCDC2 Mutation.
Exp Clin Transplant
; 20(Suppl 3): 115-117, 2022 05.
Article
in En
| MEDLINE
| ID: mdl-35570614
ABSTRACT
Ciliopathies are a heterogeneous group of diseases that are observed after deterioration of the ciliary structures on the cell surface that facilitate communication with the environment. Both liver and kidney involvement are frequently observed in this disease. Recently, a doublecortin domain containing protein 2 (DCDC2) mutation in a ciliopathy disease group was identified. Here, we present 2 patients with this mutation and with neonatal cholestasis and renal involvement.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cholestasis
/
Ciliopathies
/
Kidney Diseases
/
Liver Diseases
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
/
Newborn
Language:
En
Journal:
Exp Clin Transplant
Journal subject:
TRANSPLANTE
Year:
2022
Document type:
Article
Affiliation country:
Turkey