Stippled calcification in an infant with a recurrent SRCAP gene mutation

Am J Med Genet A. 2016 Apr;170A(4):1088-91. doi: 10.1002/ajmg.a.37516. Epub 2016 Jan 20.

Authors

Hiroko Yagi^{1

2}, Masaki Takagi^{1

2}, Satoshi Narumi³, Tomonobu Hasegawa³, Gen Nishimura⁴, Yukihiro Hasegawa^{1

2}

Affiliations

¹ Division of Genetic Research, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
² Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
³ Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
⁴ Division of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

PMID: 26788936
DOI: 10.1002/ajmg.a.37516

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adenosine Triphosphatases / genetics*
Bone and Bones / pathology
Calcinosis / diagnosis*
Calcinosis / genetics*
Child, Preschool
DNA Mutational Analysis
Humans
Male
Mutation*
Radiography

Substances

Adenosine Triphosphatases
SRCAP protein, human