Hereditary Hyperferritinemia Cataract Syndrome: Clinical, Genetic, and Laboratory Findings in 5 Families
Author:
Affiliation:
1. Hämatologie und Onkologie
2. Immunologie/Onkologie, Kinder- und Jugendklinik
3. Diagenos, Practise for Human Genetics
4. Augenklinik
Publisher
Georg Thieme Verlag KG
Subject
Pediatrics, Perinatology, and Child Health
Link
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0031-1287825.pdf
Cited by 6 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. Hereditary hyperferritinaemia-cataract syndrome (HHCS) – an underestimated condition: ferritin light chain variant spectrum in German families;Clinical Chemistry and Laboratory Medicine (CCLM);2019-06-18
2. High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia;G3 Genes|Genomes|Genetics;2017-10-01
3. Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome);BMC Medical Genetics;2017-05-08
4. Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract;BMC Research Notes;2016-02-11
5. A Premature Termination Mutation in a Patient with Lowe Syndrome without Congenital Cataracts: Dropping the “O” in OCRL;Klinische Pädiatrie;2012-08-22
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