Unprecedented insights into an ultra-rare disorder
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome
CENTOGENE’s strategy to provide accurate genetic diagnoses incorporates standardized compilation and curation of clinical observations. Its sample collection platform CentoCard®, in addition, facilitates biochemical analysis in a research setting for consented cases. The resulting datasets are highly unique as they enable a conceptual connection of genotypic, phenotypic and biomarker levels. The success of this approach was demonstrated by using the ultra-rare Hyaline Fibromatosis Syndrome as an example. The corresponding study was published in the prestigious Orphanet Journal of Rare Diseases on 27/8/2019.
Authors
- Dr. rer. nat. Claudia Cozma , MD
- Marina Hovakimyan , PhD
- Marius-Ionuț Iurașcu
- Nawal Makhseed
- Laila A. Selim
- Amal Al Hashem
- Tawfeg Ben-Omran
- Iman G. Mahmoud
- Nihal M. AL Menabawy
- Mariam Al-Mureikhi
- Magi Martin
- Laura Demuth
- Zafer Yüksel , MD
- Christian Beetz
- Prof. Arndt Rolfs , MD
- Dr. Peter Bauer , MD