PMC Articles for MedGen (Select 342352) - PMC

Select item 102061301.

Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II

Maddalena Petraroli, Antonio Percesepe, Maria Piane, Francesca Ormitti, Eleonora Castellone, Margherita Gnocchi, Giulia Messina, Luca Bernardi, Viviana Dora Patianna, Susanna Maria Roberta Esposito, Maria Elisabeth Street

Front Endocrinol (Lausanne) 2023; 14: 1018441. Published online 2023 May 10. doi: 10.3389/fendo.2023.1018441

PMCID:: PMC10206130

Abstract Article PDF–3.5M

Select item 101965262.

Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features.

Lidvana Spahiu, John A Sayer, Emir Behluli, Thomas Liehr, Gazmend Temaj

Version 2. F1000Res. 2022; 11: 388. Published online 2023 Mar 31. doi: 10.12688/f1000research.109628.2

PMCID:: PMC10196526

Abstract Article PDF–1.2M

Select item 96922813.

Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing

Othman R. Alzahrani, Hanan E. Alatwi, Amnah A. Alharbi, Abdulrahman H. Alessa, Osama M. Al-Amer, Abeer F. R. Alanazi, Anwar M. Shams, Esra’a Alomari, Abdallah Y. Naser, Faisal a. Alzahrani, Salman Hosawi, Saeed M. Alghamdi, Wed A. Abdali, Imadeldin Elfaki, Yousef M. Hawsawi

Medicina (Kaunas) 2022 Nov; 58(11): 1657. Published online 2022 Nov 16. doi: 10.3390/medicina58111657

PMCID:: PMC9692281

Abstract Article PDF–2.0M

Select item 90346754.

Atypical phenotype of a patient with Bardet–Biedl syndrome type 4

Natacha Sloboda, Laetitia Lambert, Viorica Ciorna, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Vladimir Gomola, Jean‐Louis Lemelle, Olivier Klein, Marie‐Christine Camoin‐Schweitzer, Marie Magnavacca, Carole Legagneur, Marie‐Laure Ezsto, Céline Bonnet, Christophe Philippe, Bruno Leheup

Mol Genet Genomic Med. 2022 May; 10(5): e1869. Published online 2022 Mar 23. doi: 10.1002/mgg3.1869