Osteogenesis Imperfecta type I: the role of deep phenotyping in a patient with a ruptured uterus.
This report demonstrates the potential role for ultrastructural tissue examination and deep phenotyping, to allow further insights into the relationship between genotype and phenotype.
PMID: 33166682 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Redman MG, Wagner BE, Balasubramanian M Tags: Eur J Med Genet Source Type: research
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