ผู้วิจัย/Authors: Noppawan Sriwongpanich

ชื่อเรื่อง/Title: Williams syndrome; A case report

แหล่งที่มา/Source: Journal of Mental Health of Thailand, Vol. 9, No 2, May 2001, Page 92.

รายละเอียด / Details:

A report of one patient with Williams syndrome in Rajanukul hospital a five-year-old Thai boy presented with delayed development.His facial characteristics are epicanthal folds periorbital fullness full mounth thick lips and upturned nose. He was severe mental retardation. Physical examination revealed no cardiovascular abnormality. The blood test by FISH technique was done and found deletion at elastin gene 7q11.23 region.

Keywords: Williams syndrome, elastin gene, supravalvular aortic stenosis, fluorescent in situ hybridization FISH, deletion

ปีที่เผยแพร่/Year: 2001

Address: Department of Mental Health Ministry of Public Health

Code: 0000264

ISSN/ISBN: 2859-497-X

Country of publication: Thailand.

Language: English.

Category: Abstract Journal.

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