A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1)

Am J Med Genet A. 2015 Oct;167A(10):2470-3. doi: 10.1002/ajmg.a.37173. Epub 2015 May 22.

Hane Lee¹, Lisette Nevarez², Ralph S Lachman³, William R Wilcox⁴, Deborah Krakow^{3

5

6

7}, Daniel H Cohn^{2

3

5}; University of Washington Center for Mendelian Genomics

¹ Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
² Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California.
³ International Skeletal Dysplasia Registry, University of California Los Angeles, Los Angeles, California.
⁴ Division of Medical Genetics, Department of Human Genetics, Emory University, Decatur, Georgia.
⁵ Departments of Orthopaedic Surgery, Los Angeles, California.
⁶ Human Genetics, Los Angeles, California.
⁷ Obstetrics and Gynecology, University of California Los Angeles, Los Angeles, California.

No abstract available

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