- Document type:
- Zeitschriftenaufsatz
- Author(s):
- Pölsler, Laura; Schatz, Ulrich A.; Simma, Burkhard; Zschocke, Johannes; Rudnik‐Schöneborn, Sabine
- Title:
- A Syrian patient with Steel syndrome due to compound heterozygous
COL27A1
mutations with colobomata of the eye
- Journal title:
- American Journal of Medical Genetics Part A
- Year:
- 2020
- Journal volume:
- 182
- Journal issue:
- 4
- Pages contribution:
- 730-734
- Fulltext / DOI:
- doi:10.1002/ajmg.a.61478
- Publisher:
- Wiley
- E-ISSN:
- 1552-48251552-4833
- Date of publication:
- 08.01.2020
- BibTeX