NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference38 articles.
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1. Identification of a Novel Deletion Variant (c.2999_3005delTGTGTGT/p.Asn1000SerfsTer4) in NPHP4 Associated With Nephronophthisis‐4;Journal of Clinical Laboratory Analysis;2024-06
2. Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family;Vavilov Journal of Genetics and Breeding;2024-05-30
3. Clinico-morphological phenotype and genotype of multicystic kidney dysplasia in children;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2024-05-08
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