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Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
2020 - Forschungsinformationssystem des UKE
Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2
2020 - Forschungsinformationssystem des UKE
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities
2020 - Forschungsinformationssystem des UKE