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Article

Long-term survival with diaphanospondylodysostosis (DSD): survival to 5 years and further phenotypic characteristics.

American journal of medical genetics. Part A - 1 Jun 2012

Scottoline Brian, Rosenthal Scott, Keisari Rami, Kirpekar Rashmi, Angell Cathy, Wallerstein Robert

Abstract excerpt

We report on the natural history of diaphanospondylodysostosis (DSD) in the longest known survivor. DSD is a rare form of autosomal recessive vertebral dysotosis recently identified to be caused by a mutation in the BMPER gene. This condition is characterized by absent or severely delayed ossification of vertebral bodies, short broad thorax, short neck, protuberant abdomen, marked respiratory insufficiency, and...

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Identifiers

PMID: 22581610
DOI: 10.1002/ajmg.a.35352

Genes

BMPER

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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