Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype

Smrithi Salian; Sheela Nampoothiri; Anju Shukla; Katta M. Girisha

doi:10.1111/cga.12285

Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype

Smrithi Salian, Sheela Nampoothiri, Anju Shukla, Katta M. Girisha

Department of Medical Genetics, Kasturba Medical College, Manipal

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

Original language	English
Pages (from-to)	26-27
Number of pages	2
Journal	Congenital Anomalies
Volume	59
Issue number	1
DOIs	https://doi.org/10.1111/cga.12285
Publication status	Published - 01-01-2019

All Science Journal Classification (ASJC) codes

Medicine(all)

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10.1111/cga.12285

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Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype

All Science Journal Classification (ASJC) codes

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