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Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single‐Center Report

Pediatric Dermatology
2024-11 | Journal article
Contributors: Laura Krogh Herlin; Morten Krogh Herlin; Hanne Vinter; Jenny Blechingberg; Brian Nauheimer Andersen; Casper Kruse; Mette Sommerlund
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A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses

JIMD Reports
2021-05 | Journal article
Contributors: Morten Alstrup; Ida Vogel; Puk Sandager; Jenny Blechingberg; Naja Becher; Elsebet Østergaard
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