@article {239,
	title = {Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.},
	journal = {Am J Med Genet A},
	volume = {164A},
	year = {2014},
	month = {2014 Sep},
	pages = {2407-11},
	keywords = {Adolescent, Amino Acid Sequence, Base Sequence, Child, Child, Preschool, Female, Humans, Infant, Molecular Sequence Data, Mutagenesis, Insertional, Mutation, Osteochondrodysplasias, Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases, Phosphoric Monoester Hydrolases, Protein Stability, Radiography, RNA Splice Sites, src Homology Domains},
	issn = {1552-4833},
	doi = {10.1002/ajmg.a.36640},
	author = {Li, Bing and Krakow, Deborah and Nickerson, Deborah A and Bamshad, Michael J and Chang, Yong and Lachman, Ralph S and Yilmaz, Alev and Kayserili, H{\"u}lya and Cohn, Daniel H}
}
