Oral-Facial-Digital Syndrome Latest Advances

RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1.

Journal: American journal of medical genetics. Part A

Published: September 09, 2025

Analysis of OFD1 gene variant in a child with Oral-facial-digital syndrome

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: August 05, 2025

Expanding the phenotype associated with biallelic SCNM1 variants.

Journal: Human genomics

Published: July 24, 2025

The Luminal Ring Protein C2CD3 Acts as a Radial In-to-Out Organizer of the Distal Centriole and Appendages.

Journal: bioRxiv : the preprint server for biology

Published: July 16, 2025

The luminal ring protein C2CD3 acts as a radial in-to-out organizer of the distal centriole and appendages.

Journal: PLoS biology

Published: June 18, 2025

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.

Journal: Clinical genetics

Published: May 28, 2025

Dental and Craniofacial Findings in Early Childhood in Oral-Facial-Digital Syndrome Type 1: A Case Report.

Journal: Case reports in dentistry

Published: May 02, 2025

Novel OFD1 Mutation Results in Unusually Early-Onset Polycystic Kidney Disease.

Journal: Case reports in nephrology and dialysis

Published: April 17, 2025

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.

Journal: Human genomics

Published: February 10, 2025

Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases.

Journal: Genes

Published: November 07, 2024

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Journal: bioRxiv : the preprint server for biology

Published: October 10, 2024

Identification of Human Pathways Acting on Nuclear Non-Coding RNAs Using the Mirror Forward Genetic Approach.

Journal: bioRxiv : the preprint server for biology

Published: October 10, 2024

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RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1.

RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1.

Analysis of OFD1 gene variant in a child with Oral-facial-digital syndrome

Analysis of OFD1 gene variant in a child with Oral-facial-digital syndrome

Expanding the phenotype associated with biallelic SCNM1 variants.

Expanding the phenotype associated with biallelic SCNM1 variants.

The Luminal Ring Protein C2CD3 Acts as a Radial In-to-Out Organizer of the Distal Centriole and Appendages.

The Luminal Ring Protein C2CD3 Acts as a Radial In-to-Out Organizer of the Distal Centriole and Appendages.

The luminal ring protein C2CD3 acts as a radial in-to-out organizer of the distal centriole and appendages.

The luminal ring protein C2CD3 acts as a radial in-to-out organizer of the distal centriole and appendages.

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.

Dental and Craniofacial Findings in Early Childhood in Oral-Facial-Digital Syndrome Type 1: A Case Report.

Dental and Craniofacial Findings in Early Childhood in Oral-Facial-Digital Syndrome Type 1: A Case Report.

Novel OFD1 Mutation Results in Unusually Early-Onset Polycystic Kidney Disease.

Novel OFD1 Mutation Results in Unusually Early-Onset Polycystic Kidney Disease.

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.

Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases.

Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases.

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Identification of Human Pathways Acting on Nuclear Non-Coding RNAs Using the Mirror Forward Genetic Approach.

Identification of Human Pathways Acting on Nuclear Non-Coding RNAs Using the Mirror Forward Genetic Approach.