Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Turnpenny, Peter D; Wright, Michael J; Sloman, Melissa; Caswell, Richard; van Essen, Anthony J; Gerkes, Erica; Pfundt, Rolph; White, Susan M; Shaul-Lotan, Nava; Carpenter, Lori; Schaefer, G Bradley; Fryer, Alan; Innes, A Micheil; Forbes, Kirsten P; Chung, Wendy K; McLaughlin, Heather; Henderson, Lindsay B; Roberts, Amy E; Heath, Karen E; Paumard-Hernández, Beatriz; Gener, Blanca; Fawcett, Katherine A; Gjergja-Juraski, Romana; Pilz, Daniela T; Fry, Andrew E

Turnpenny, Peter D; Wright, Michael J; Sloman, Melissa; Caswell, Richard; van Essen, Anthony J; Gerkes, Erica; Pfundt, Rolph; White, Susan M; Shaul-Lotan, Nava; Carpenter, Lori; Schaefer, G Bradley; Fryer, Alan; Innes, A Micheil; Forbes, Kirsten P; Chung, Wendy K; McLaughlin, Heather; Henderson, Lindsay B; Roberts, Amy E; Heath, Karen E; Paumard-Hernández, Beatriz; Gener, Blanca; Fawcett, Katherine A; Gjergja-Juraski, Romana; Pilz, Daniela T; Fry, Andrew E.

Am J Hum Genet ; 103(6): 1054-1055, 2018 12 06.

Article en En | MEDLINE | ID: mdl-30526864

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Am J Hum Genet Año: 2018 Tipo del documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google