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Last Updated: 10/31/2025
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Found 81 publications
Clinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type).
Journal: Iranian journal of public health
Published: February 10, 2024
Analysis of phenotype and pathogenic variants in a Chinese pedigree affected with Multiple synostoses syndrome type 1
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 29, 2023
Disease-related PSS1 mutant impedes the formation and function of osteoclasts.
Journal: Journal of lipid research
Published: February 06, 2023
Proximal interphalangeal-level fracture in patient with symphalangism.
Journal: Case reports in plastic surgery & hand surgery
Published: October 10, 2022
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?
Journal: European journal of medical genetics
Published: August 31, 2022
De novo loss-of-function variant in PTDSS1 is associated with developmental delay.
Journal: American journal of medical genetics. Part A
Published: December 28, 2021
Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation.
Journal: American journal of medical genetics. Part A
Published: June 02, 2021
Delayed-Onset NOG Gene-Related Syndromic Conductive Deafness: A Case Report.
Journal: Ear, nose, & throat journal
Published: August 15, 2020
Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital?
Journal: ORL; journal for oto-rhino-laryngology and its related specialties
Published: July 03, 2020
Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism.
Journal: Bioscience reports
Published: February 22, 2020
Multiple synostoses syndrome: Clinical report and retrospective analysis.
Journal: American journal of medical genetics. Part A
Published: November 08, 2019
Lenz-Majewski syndrome in a patient from Egypt.
Journal: American journal of medical genetics. Part A
Published: June 13, 2019
Last Updated: 10/31/2025