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Aryl hydrocarbon receptor interacting protein and syndromic gene variants detected in Turkish isolated pituitary adenoma families by whole exome sequencing

Abstract Genetic causes of familial isolated pituitary adenomas (FIPAs) remain mostly elusive. A cohort of 20 FIPA cases from 12 different geographical regions of Türkiye was included to characterize clinical and genetic features. Whole exome sequencing (WES) was performed on genomic DNA of index ca...

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Hlavní autoři: M. Eda Ertorer, Feyza N. Tuncer, Sema Ciftci, Seher Tanrikulu, Ozlem Soyluk Selcukbiricik, Ömercan Topaloğlu, Mehtap Evran, Pinar Kadioglu, Sevcan Aydin, Bulent Can, Canan Sehit, Zafer Pekkolay, Guzide Gonca Oruk, Berrin Cetinarslan, Sema Yarman
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Portfolio 2025-07-01
Edice:Scientific Reports
Témata:
FIPAs
Whole exome sequencing
AIP
Novel variants
Syndromic genes
On-line přístup:https://doi.org/10.1038/s41598-025-08610-1
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