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

General Medicine

Access to Document

10.1111/cga.12285

Cite this

@article{6590b2a26b41436d8a1f4c4bb5e384bf,

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

author = "Smrithi Salian and Sheela Nampoothiri and Anju Shukla and Girisha, \{Katta M.\}",

year = "2019",

month = jan,

day = "1",

doi = "10.1111/cga.12285",

language = "English",

volume = "59",

pages = "26--27",

journal = "Congenital Anomalies",

issn = "0914-3505",

publisher = "John Wiley and Sons Inc.",

number = "1",

}

TY - JOUR

T1 - Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype

AU - Salian, Smrithi

AU - Nampoothiri, Sheela

AU - Shukla, Anju

AU - Girisha, Katta M.

PY - 2019/1/1

Y1 - 2019/1/1

UR - https://www.scopus.com/pages/publications/85056182099

UR - https://www.scopus.com/pages/publications/85056182099#tab=citedBy

U2 - 10.1111/cga.12285

DO - 10.1111/cga.12285

M3 - Article

C2 - 29704261

AN - SCOPUS:85056182099

SN - 0914-3505

VL - 59

SP - 26

EP - 27

JO - Congenital Anomalies

JF - Congenital Anomalies

IS - 1

ER -

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

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Cite this