Article
Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.
The Journal of clinical endocrinology and metabolism - 1 Mar 2008
Asakura Yumi, Toyota Yuko, Muroya Koji, Kurosawa Kenji, Fujita Kazutoshi, Aida Noriko, Kawame Hiroshi, Kosaki Kenjiro, Adachi Masanori
Abstract excerpt
CONTEXT: CHARGE syndrome is a complex of congenital malformations, and CHD7 has been reported as a major gene involved in the etiology. OBJECTIVE: We performed endocrine and radiological studies to determine whether endocrinological disorders such as hypogonadotropic hypogonadism, GH deficiency, or hypothyroidism are involved and also whether olfactory bulb hypoplasia and semicircular canal aplasia are major...
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