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Autor:
Heike de Vries, Bernd F. M. Romeike, Stephan Borte, Uwe Schneider, Martin A. Mensah, Solveig Schulz, Rosemarie Fröber, Karim Kentouche, Detlev Schindler
Recently, variants in DONSON have been reported to cause different disorders of the microcephalic primordial dwarfism spectrum. Using whole-exome sequencing, we identified two novel, compound heterozygous DONSON variants in a pair of siblings, one of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0828656b3abfd6714f4c5b29f23da60
https://europepmc.org/articles/PMC6117362/
https://europepmc.org/articles/PMC6117362/