Role of TBX1 in human del22q11.2 syndrome.

Background: Del22q11.2 syndrome is the most frequent known chromosomal microdeletion syndrome, with an incidence of 1 in 4000-5000 livebirths. It is characterised by a 3-Mb deletion on chromosome 22q11.2, cardiac abnormalities, T-cell deficits, cleft palate facial anomalies, and hypocalcaemia. At le...

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Detalles Bibliográficos
Publicado en:Lancet Vol. 362; no. 9393; pp. 1366 - 1374
Autores principales: Yagi, Hisato, Furutani, Yoshiyuki, Hamada, Hiromichi, Sasaki, Takashi, Asakawa, Shuichi, Minoshima, Shinsei, Ichida, Fukiko, Joo, Kunitaka, Kimura, Misa, Imamura, Shin-ichiro, Kamatani, Naoyuki, Momma, Kazuo, Takao, Atsuyoshi, Nakazawa, Makoto, Shimizu, Nobuyoshi, Matsuoka, Rumiko
Formato: research Journal Article
Publicado: Lancet 10/25/2003
Acceso en línea:Ver este registro en EBSCOhost