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.


  • 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


Tagged as
  • Hyaline Fibromatosis Syndrome