@article {237,
	title = {Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.},
	journal = {Eur J Hum Genet},
	volume = {23},
	year = {2015},
	month = {2015 Mar},
	pages = {342-6},
	abstract = {<p>Osteochondrodysplasias represent a large group of developmental structural disorders that can be caused by mutations in a variety of genes responsible for chondrocyte development, differentiation, mineralization and early ossification. The application of whole-exome sequencing to disorders apparently segregating as Mendelian traits has proven to be an effective approach to disease gene identification for conditions with unknown molecular etiology. We identified a homozygous missense variant p.(Gly697Arg) in COL27A1, in a family with Steel syndrome and no consanguinity. Interestingly, the identified variant seems to have arisen as a founder mutation in the Puerto Rican population. </p>},
	keywords = {Amino Acid Sequence, Child, Preschool, Comparative Genomic Hybridization, Exome, Female, Fibrillar Collagens, Follow-Up Studies, Founder Effect, Genotype, Hispanic Americans, Humans, Infant, Male, Molecular Sequence Data, Mutation, Osteochondrodysplasias, Pedigree, Polymorphism, Single Nucleotide, Prostaglandins F, Puerto Rico, Sequence Alignment},
	issn = {1476-5438},
	doi = {10.1038/ejhg.2014.107},
	author = {Gonzaga-Jauregui, Claudia and Gamble, Candace N and Yuan, Bo and Penney, Samantha and Jhangiani, Shalini and Muzny, Donna M and Gibbs, Richard A and Lupski, James R and Hecht, Jacqueline T}
}
