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Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D

Rai, Archanaa; Puri, Ratna D.b; Phadke, Shubha R.a

doi: 10.1097/MCD.0000000000000236

aDepartment of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh

bInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India

Correspondence to Shubha R. Phadke, MD, DM, Department of Medical Genetics, SGPGIMS, Raebareli Road, Lucknow 226014, India Tel: +91 522 249 4325; e-mail:

Received November 11, 2017

Accepted December 19, 2017

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