Copy-number variants and candidate gene mutations in isolated split hand/foot malformation

Split hand/foot malformation (SHFM) is a congenital limb deficiency with missing or shortened central digits. Some SHFM genes have been identified but the cause of many SHFM cases is unknown. We used single nucleotide polymorphism (SNP) microarray analysis to detect copy-number variants (CNVs) in 25...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:J Hum Genet
Autors principals: Carter, Tonia C., Sicko, Robert J., Kay, Denise M., Browne, Marilyn L., Romitti, Paul A., Edmunds, Zoë L., Liu, Aiyi, Fan, Ruzong, Druschel, Charlotte M., Caggana, Michele, Brody, Lawrence C., Mills, James L.
Format: Artigo
Idioma:Inglês
Publicat: 2017
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5612852/
https://ncbi.nlm.nih.gov/pubmed/28539665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2017.56
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars