Deafness Craniofacial Syndrome Latest Advances

Clinical and Genetic Insights Into Aymé-Gripp Syndrome: Two Unrelated Cases With Additional Clinical Findings and Paternal Mosaicism.

Journal: Developmental neurobiology

Published: May 28, 2026

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

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature.

Journal: Clinical genetics

Published: January 24, 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

Loeys-Dietz syndrome: 2026 updated care management primer.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 01, 2025

Hearing loss in Langerhans cell histiocytosis: close association with central nervous system consequences.

Journal: International journal of hematology

Published: July 28, 2025

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: July 15, 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

Impact of hearing aid use on cognitive function in elderly individuals with hearing loss: a prospective study.

Journal: Brazilian journal of otorhinolaryngology

Published: May 21, 2025

Distinctive Amelogenesis Imperfecta in Loeys-Dietz Syndrome Type II.

Journal: Journal of dental research

Published: April 22, 2025

GZMK+CD8+ T cells target a specific acinar cell type in Sjögren's disease.

Journal: Annals of the rheumatic diseases

Published: March 19, 2025

Deafness Craniofacial Syndrome Latest Advances

Find the Latest Research About Deafness Craniofacial Syndrome

Clinical and Genetic Insights Into Aymé-Gripp Syndrome: Two Unrelated Cases With Additional Clinical Findings and Paternal Mosaicism.

Clinical and Genetic Insights Into Aymé-Gripp Syndrome: Two Unrelated Cases With Additional Clinical Findings and Paternal Mosaicism.

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.

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature.

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature.

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.

Loeys-Dietz syndrome: 2026 updated care management primer.

Loeys-Dietz syndrome: 2026 updated care management primer.

Hearing loss in Langerhans cell histiocytosis: close association with central nervous system consequences.

Hearing loss in Langerhans cell histiocytosis: close association with central nervous system consequences.

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research.

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research.

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.

Impact of hearing aid use on cognitive function in elderly individuals with hearing loss: a prospective study.

Impact of hearing aid use on cognitive function in elderly individuals with hearing loss: a prospective study.

Distinctive Amelogenesis Imperfecta in Loeys-Dietz Syndrome Type II.

Distinctive Amelogenesis Imperfecta in Loeys-Dietz Syndrome Type II.

GZMK+CD8+ T cells target a specific acinar cell type in Sjögren's disease.

GZMK+CD8+ T cells target a specific acinar cell type in Sjögren's disease.