Fountain Syndrome Latest Advances

Find the Latest Research About Fountain Syndrome

Last Updated: 04/28/2026

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Found 242 publications

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.

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.

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

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

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.

Journal: Clinical genetics
Published: July 01, 2025

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.

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.

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.

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.

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).

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.

Otologic Manifestations in Patients with Achondroplasia: A Multicenter Study.

Journal: The journal of international advanced otology
Published: December 11, 2024

Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review.

Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review.

Journal: World journal of methodology
Published: October 17, 2024

Novel LOXL3-associated stickler syndrome-like phenotype: a case report.

Novel LOXL3-associated stickler syndrome-like phenotype: a case report.

Journal: Ophthalmic genetics
Published: July 03, 2024
Showing 1-12 of 242

Last Updated: 04/28/2026