A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. (Original Articles)

Authors :: Reardon, William
Zhou, Xiao-Ping
Eng, Charis
Source :: Journal of Medical Genetics. December 2001, Vol. 38 Issue 12, p820, 4 p.
Publication Year :: 2001
Abstract: Abstract Mutations of the PTEN gene are associated with hamartoma-neoplasia syndromes. While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba [...]

Subjects :: Genetic disorders -- Research -- Genetic aspects
Hydrocephalus -- Genetic aspects -- Research
Macrocephaly -- Causes of -- Research -- Genetic aspects
Health
Genetic aspects
Research
Causes of

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