Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p

A girl fulfilling four/five of six inclusion criteria and eight/nine of 11 supportive criteria for atypical Rett syndrome had a cytogenetic deletion of chromosome 3p, del(3)(pter→3p25.1~25.2). The deletion was situated on the maternally derived chromosome and by molecular analysis the deletion break...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Wahlstrom, J., Uller, A., Johannesson, T., Holmqvist, D., Darnfors, C., Vujic, M., Tonnby, B., Hagberg, B., Martinsson, T.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Group 1999
Gaiak:
Short Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734344/
https://ncbi.nlm.nih.gov/pubmed/10227408
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak