PMC Links for Books (Select 1465062) - PMC

Select item 100819541.

Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier-Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew Warman, Andrea Superti-Furga

Am J Med Genet A. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Am J Med Genet A. 2023 May; 191(5): 1164–1209. Published online 2023 Feb 13. doi: 10.1002/ajmg.a.63132

PMCID:: PMC10081954

Abstract Article PDF–894K

Select item 74972892.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 45447533.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 43618994.

A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia

L Bonafé, J Hästbacka, A de la Chapelle, A B Campos-Xavier, C Chiesa, A Forlino, A Superti-Furga, A Rossi

J Med Genet. Author manuscript; available in PMC 2015 Mar 17.

Published in final edited form as: J Med Genet. 2008 Dec; 45(12): 827–831. Published online 2008 Aug 15. doi: 10.1136/jmg.2007.057158

PMCID:: PMC4361899

Abstract Article PDF–920K

Select item 19145525.

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.

J. Hästbacka, A. Superti-Furga, W. R. Wilcox, D. L. Rimoin, D. H. Cohn, E. S. Lander

Am J Hum Genet. 1996 Feb; 58(2): 255–262.

PMCID:: PMC1914552

Summary Page Browse PDF–1.7M

Select item 10511876.

Atelosteogenesis type 2.

R Newbury-Ecob

J Med Genet. 1998 Jan; 35(1): 49–53. doi: 10.1136/jmg.35.1.49

PMCID:: PMC1051187

Summary Page Browse PDF–1.2M

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