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Article

BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis.

Journal of human genetics - 1 Dec 2015

Zong Zheyuan, Tees Susan, Miyanji Firoz, Fauth Clarissa, Reilly Christopher, Lopez Elena, Tredwell Stephen, Paul Goldberg Yigal, Delaney Allen, Eydoux Patrice, Van Allen Margot, Lehman Anna

Abstract excerpt

Diaphanospondylodysostosis (DSD), caused by loss of bone morphogenetic protein-binding endothelial regulator (BMPER), has been considered a lethal skeletal dysplasia characterized by severe deficiency of vertebral body and sacral ossification, reduced rib number and cystic kidneys. In this study, however, we have demonstrated that variants in BMPER may cause a milder disorder, without renal anomalies, that is...

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Source

Identifiers

PMID: 26467725
DOI: 10.1038/jhg.2015.116

Genes

BMPER

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Related research

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BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis.PMID 26467725Read ↗

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Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation.Semantic proximity Read ↗

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