Expanding the mutation spectrum for Fraser syndrome: Identification of a novel heterozygous deletion in FRAS1-Reference-Cited by-同舟云学术

Expanding the mutation spectrum for Fraser syndrome: Identification of a novel heterozygous deletion in FRAS1

Published:2013-05 Issue:2 Volume:520 Page:194-197
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Hoefele Julia,Wilhelm Christian,Schiesser Monika,Mack Reinhold,Heinrich Uwe,Weber Lutz T.,Biskup Saskia,Daumer-Haas Cornelia,Klein Hanns-Georg,Rost Imma

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference13 articles.

1. Our genetic ‘load’. A review of some aspects of genetical variation;Fraser;Ann. Hum. Genet.,1962

2. Evidence of oligogenic inheritance in nephronophthisis;Hoefele;J. Am. Soc. Nephrol.,2007

3. Triallelic inheritance in Bardet–Biedl syndrome, a Mendelian recessive disorder;Katsanis;Science,2001

4. Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia;Martinez-Frias;Am. J. Med. Genet.,1994

5. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein;McGregor;Nat. Genet.,2003

Cited by 23 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic Variants Associated with Body Mass Index Changes in Korean Adults: The Anseong and Ansan Cohorts of the Korean Genome and Epidemiology Study;Current Issues in Molecular Biology;2024-08-19

2. Novel Gene Polymorphisms for Stable Warfarin Dose in a Korean Population: Genome-Wide Association Study;Biomedicines;2023-08-19

3. SLC4A4, FRAS1, and SULT1A1 Genetic Variations Associated With Dabigatran Metabolism in a Healthy Chinese Population;Frontiers in Genetics;2022-05-13

4. Comparative Genomics Provides Insights into Adaptive Evolution in Tactile-Foraging Birds;Genes;2022-04-12

5. Ocular manifestations of Fraser syndrome in children. A clinical case;Russian Ophthalmological Journal;2021-09-15