Fountain Syndrome Latest Advances

Comprehensive analysis of hearing function in Morquio A syndrome: Implications for diagnosis and management.

Journal: Molecular genetics and metabolism

Published: February 28, 2026

Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.

Journal: PloS one

Published: September 03, 2025

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

Clinical phenotype and genotypic analysis of a four-generation Chinese pedigree affected with Stickler syndrome and a literature review

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

Published: August 05, 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

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

Journal: Clinical genetics

Published: July 01, 2025

Genetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family.

Journal: Frontiers in pediatrics

Published: June 22, 2025

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.

Journal: Medicine

Published: May 07, 2025

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.

Journal: Molecular syndromology

Published: March 05, 2025

Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene.

Journal: Clinical genetics

Published: February 16, 2025

Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631).

Journal: Bone

Published: January 14, 2025

Otologic Manifestations in Patients with Achondroplasia: A Multicenter Study.

Journal: The journal of international advanced otology

Published: December 11, 2024

Fountain Syndrome Latest Advances

Find the Latest Research About Fountain Syndrome

Comprehensive analysis of hearing function in Morquio A syndrome: Implications for diagnosis and management.

Comprehensive analysis of hearing function in Morquio A syndrome: Implications for diagnosis and management.

Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.

Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.

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.

Clinical phenotype and genotypic analysis of a four-generation Chinese pedigree affected with Stickler syndrome and a literature review

Clinical phenotype and genotypic analysis of a four-generation Chinese pedigree affected with Stickler syndrome and a literature review

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

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

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

Genetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family.

Genetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family.

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.

Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene.

Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene.

Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631).

Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631).

Otologic Manifestations in Patients with Achondroplasia: A Multicenter Study.

Otologic Manifestations in Patients with Achondroplasia: A Multicenter Study.