Deafness Craniofacial Syndrome Latest Advances

Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.

Journal: The American journal of case reports

Published: February 20, 2026

Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.

Journal: International journal of molecular sciences

Published: January 29, 2026

Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping.

Journal: Sultan Qaboos University medical journal

Published: August 19, 2025

Type of Primary Surgery and Postoperative Velopharyngeal Function in Patients With Submucous Cleft Palate at 3 years and Older.

Journal: The Journal of craniofacial surgery

Published: June 26, 2025

Distinctive Amelogenesis Imperfecta in Loeys-Dietz Syndrome Type II.

Journal: Journal of dental research

Published: April 22, 2025

A Single Institution Comparison of Speech Outcomes Following Palatoplasty in Stickler Syndrome.

Journal: Annals of plastic surgery

Published: March 07, 2025

Genetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome.

Journal: Journal of the American Academy of Audiology

Published: February 27, 2025

Targets of the transcription factor Six1 identify previously unreported candidate deafness genes.

Journal: Development (Cambridge, England)

Published: November 18, 2024

Systematic phenotype and genotype characterization of Moebius syndrome.

Journal: Genetics in medicine open

Published: November 05, 2024

The oral and maxillofacial manifestations of Stickler syndrome: A systematic review.

Journal: Journal of stomatology, oral and maxillofacial surgery

Published: October 16, 2024

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Journal: American journal of human genetics

Published: September 13, 2024

Tmco1-Deficient Mice Exhibit a High Incidence of Otitis Media Associated with Impaired Bone Homeostasis in the Middle Ear.

Journal: The American journal of pathology

Published: May 14, 2024

Deafness Craniofacial Syndrome Latest Advances

Find the Latest Research About Deafness Craniofacial Syndrome

Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.

Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.

Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.

Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.

Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping.

Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping.

Type of Primary Surgery and Postoperative Velopharyngeal Function in Patients With Submucous Cleft Palate at 3 years and Older.

Type of Primary Surgery and Postoperative Velopharyngeal Function in Patients With Submucous Cleft Palate at 3 years and Older.

Distinctive Amelogenesis Imperfecta in Loeys-Dietz Syndrome Type II.

Distinctive Amelogenesis Imperfecta in Loeys-Dietz Syndrome Type II.

A Single Institution Comparison of Speech Outcomes Following Palatoplasty in Stickler Syndrome.

A Single Institution Comparison of Speech Outcomes Following Palatoplasty in Stickler Syndrome.

Genetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome.

Genetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome.

Targets of the transcription factor Six1 identify previously unreported candidate deafness genes.

Targets of the transcription factor Six1 identify previously unreported candidate deafness genes.

Systematic phenotype and genotype characterization of Moebius syndrome.

Systematic phenotype and genotype characterization of Moebius syndrome.

The oral and maxillofacial manifestations of Stickler syndrome: A systematic review.

The oral and maxillofacial manifestations of Stickler syndrome: A systematic review.

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Tmco1-Deficient Mice Exhibit a High Incidence of Otitis Media Associated with Impaired Bone Homeostasis in the Middle Ear.

Tmco1-Deficient Mice Exhibit a High Incidence of Otitis Media Associated with Impaired Bone Homeostasis in the Middle Ear.