Proximal Symphalangism Latest Advances

A Novel Clinical Feature in NOG Gene Mutation-Associated Syndrome.

Journal: Audiology research

Published: August 04, 2025

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

Proximal Symphalangism Latest Advances

Find the Latest Research About Proximal Symphalangism

A Novel Clinical Feature in NOG Gene Mutation-Associated Syndrome.

A Novel Clinical Feature in NOG Gene Mutation-Associated Syndrome.

Clinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type).

Clinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type).

Analysis of phenotype and pathogenic variants in a Chinese pedigree affected with Multiple synostoses syndrome type 1

Analysis of phenotype and pathogenic variants in a Chinese pedigree affected with Multiple synostoses syndrome type 1

Disease-related PSS1 mutant impedes the formation and function of osteoclasts.

Disease-related PSS1 mutant impedes the formation and function of osteoclasts.

Proximal interphalangeal-level fracture in patient with symphalangism.

Proximal interphalangeal-level fracture in patient with symphalangism.

Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?

Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?

De novo loss-of-function variant in PTDSS1 is associated with developmental delay.

De novo loss-of-function variant in PTDSS1 is associated with developmental delay.

Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation.

Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation.

Delayed-Onset NOG Gene-Related Syndromic Conductive Deafness: A Case Report.

Delayed-Onset NOG Gene-Related Syndromic Conductive Deafness: A Case Report.

Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital?

Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital?

Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism.

Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism.

Multiple synostoses syndrome: Clinical report and retrospective analysis.

Multiple synostoses syndrome: Clinical report and retrospective analysis.