Carregant...

Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes

Smith–Magenis syndrome (SMS) and Potocki–Lupski syndrome (PTLS) are reciprocal contiguous gene syndromes within the well-characterized 17p11.2 region. Approximately 3.6 Mb microduplication of 17p11.2, known as PTLS, represents the mechanistically predicted homologous recombination reciprocal of the...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:J Pediatr Genet
Autors principals: Neira-Fresneda, Juanita, Potocki, Lorraine
Format: Artigo
Idioma:Inglês
Publicat: Georg Thieme Verlag KG 2015
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4918721/
https://ncbi.nlm.nih.gov/pubmed/27617127
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0035-1564443
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!