Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma

Author:

Ralph Douglas123ORCID,Levine Michael A.4ORCID,Richard Gabriele5,Morrow Michelle M.5,Flynn Elizabeth K.5,Uitto Jouni13ORCID,Li Qiaoli13ORCID

Affiliation:

1. Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine Thomas Jefferson University Philadelphia Pennsylvania USA

2. Genetics, Genomics and Cancer Biology Ph.D. Program, Jefferson College of Life Sciences Thomas Jefferson University Philadelphia Pennsylvania USA

3. PXE International Center of Excellence in Research and Clinical Care Thomas Jefferson University Philadelphia Pennsylvania USA

4. Division of Endocrinology and Diabetes Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

5. GeneDx Inc. Gaithersburg Maryland USA

Funder

National Institutes of Health

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

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