Ischiospinal Dysostosis in a boy with a novel homozygous missense mutation in the BMPER gene

dc.contributor.authorKablan, A.
dc.contributor.authorMat, B.
dc.contributor.authorTemel, S. G.
dc.contributor.authorAlanay, Y.
dc.date.accessioned2025-10-16T15:23:21Z
dc.date.issued2019
dc.description.abstract51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, ITALY, JUN 16-19, 2018
dc.identifier.otherWOS:000489313107102
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/7973
dc.publisherNATURE PUBLISHING GROUP
dc.sourceEUROPEAN JOURNAL OF HUMAN GENETICS
dc.titleIschiospinal Dysostosis in a boy with a novel homozygous missense mutation in the BMPER gene
dc.typeMeeting Abstract

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