@article {641,
	title = {An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.},
	journal = {Am J Med Genet A},
	volume = {167A},
	year = {2015},
	month = {2015 Jan},
	pages = {159-63},
	abstract = {<p>We describe a boy who has an anadysplasia-like spondylometaphyseal dysplasia. By whole exome sequencing he was shown to have compound heterozygous mutations of LBR that codes for the lamin B receptor. He shares many similarities with a case previously described, but in whom the early natural history could not be established [Borovik et al., 2013]. Thus, in addition to Greenberg dysplasia (a perinatal lethal disorder), homozygosity or compound heterozygosity of mutations in LBR can result in a mild, spontaneously regressing bone dysplasia.</p>},
	keywords = {Adolescent, Adult, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Male, Mutation, Osteochondrodysplasias, Phenotype, Pregnancy, Radiography, Receptors, Cytoplasmic and Nuclear, Spine},
	issn = {1552-4833},
	doi = {10.1002/ajmg.a.36808},
	author = {Sobreira, Nara and Modaff, Peggy and Steel, Gary and You, Jing and Nanda, Sonia and Hoover-Fong, Julie and Valle, David and Pauli, Richard M}
}
@article {191,
	title = {γ-Secretase Mutation in an African American Family With Hidradenitis Suppurativa.},
	journal = {JAMA Dermatol},
	volume = {151},
	year = {2015},
	month = {2015 Jun},
	pages = {668-70},
	keywords = {Adolescent, Adult, African Americans, Amyloid Precursor Protein Secretases, Exome, Female, Hidradenitis Suppurativa, Humans, Membrane Glycoproteins, Middle Aged, Mutation, Sequence Analysis, DNA, Young Adult},
	issn = {2168-6084},
	doi = {10.1001/jamadermatol.2014.5306},
	author = {Chen, Sean and Mattei, Peter and You, Jing and Sobreira, Nara L and Hinds, Ginette A}
}
