Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities
Titel:
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities
Auteur:
Schneeberger, Pauline E. von Elsner, Leonie Barker, Emma L. Meinecke, Peter Marquardt, Iris Alawi, Malik Steindl, Katharina Joset, Pascal Rauch, Anita Zwijnenburg, Petra J.G. Weiss, Marjan M. Merry, Catherine L.R. Kutsche, Kerstin