Novel compound heterozygous mutations in inositol polyphosphate phosphatase-like 1 in a family with severe opsismodysplasia.

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Published in Clin Dysmorphol on October 01, 2016

Authors

Cori Feist1, Paul Holden, Jamie Fitzgerald

Author Affiliations

1: Departments of aPerinatology bOrthopaedics and Rehabilitation, Oregon Health and Science University, Portland, Oregon cDepartment of Orthopaedic Surgery, Bone and Joint Center, Henry Ford Hospital System, Detroit, Michigan, USA.

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INPPL1 gene mutations in opsismodysplasia. J Hum Genet (2016) 0.75

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