Journal article
Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years
American journal of medical genetics. Part A, v 173(10), pp 2808-2813
Oct 2017
PMID: 28815954
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Diaphanospondylodysostosis (DSD) and ischiospinal dysostosis (ISD) are both rare skeletal dysplasias consisting of abnormal axial skeletal development but normal appendicular skeletal development. Both disorders recently have been found to result from mutations in the BMPER gene. We report a patient with one deletion and one mutation of the BMPER gene who has features most consistent with DSD but who has survived to age 9 years. Survival suggests that DSD and ISD reflect a spectrum of severity of one disease process.
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Details
- Title
- Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years
- Creators
- Janet M Legare - University of Wisconsin–MadisonKristin Seaborg - Meriter HospitalJennifer Laffin - University of Wisconsin–MadisonPhilip F Giampietro - Drexel University
- Publication Details
- American journal of medical genetics. Part A, v 173(10), pp 2808-2813
- Publisher
- Wiley
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Web of Science ID
- WOS:000411036600036
- Scopus ID
- 2-s2.0-85029582230
- Other Identifier
- 991019167727304721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Genetics & Heredity