Fraser Syndrome

Chen, Harold

doi:10.1007/978-1-4939-2401-1_97

Atlas of Genetic Diagnosis and Counseling 2017

DOI: 10.1007/978-1-4939-2401-1_97

|View full text |Cite

Fraser Syndrome

Harold Chen¹

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2021

Publication Types

Select...

Article1

Relationship

Self Cite0

Independent1

Authors

Journals

Cited by 1 publication

References 42 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

Orpha disease – FRASER syndrome (ORPHA:2052) in children: phenotype and genotype characteristics

Левиашвили

Савенкова

2021

Nefrologiâ (St.-Peterbg.)

View full text Add to dashboard Cite

Fraser syndrome (OMIM # 219000; ORPHA: 2052; ICD-10: Q87.0) is a rare, disease with an autosomal recessive type of inheritance is characterized by abnormalities in the development of the eyes, kidneys, larynx, ears, and bone systems (cryptophthalmos, syndactyly, abnormalities of the kidneys, urogenital tract, and respiratory system). The article presents current literature data on the phenotypic and genotypic features of Fraser syndrome, the management of patients with new opportunities for genetic diagnosis and treatment. The syndrome, described by D. Fraser in 1962, is caused by mutations in the FRAS1, FREM2, GRIP genes. The diagnosis of the Fraser syndrome phenotype is established in the presence of the main criteria (cryptophthalmos, syndactyly, abnormalities of the urinary and respiratory system, genitals, family history indicating a closely related marriage) and secondary (congenital malformations of the nose and ears, skull ossification defects, anorectal abnormalities, umbilical hernia, etc.). Molecular genetic testing proves a rare disease, requires genetic counseling. The management of patients is carried out jointly by an ophthalmologist, an otolaryngologist, an audiologist, a nephrologist, a urologist, a maxillofacial surgeon and other specialists.

show abstract

Orpha disease – FRASER syndrome (ORPHA:2052) in children: phenotype and genotype characteristics

Левиашвили

Савенкова

2021

Nefrologiâ (St.-Peterbg.)

View full text Add to dashboard Cite

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Fraser Syndrome

Cited by 1 publication

References 42 publications

Orpha disease – FRASER syndrome (ORPHA:2052) in children: phenotype and genotype characteristics

Orpha disease – FRASER syndrome (ORPHA:2052) in children: phenotype and genotype characteristics

Contact Info

Product

Resources

About