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A novel mutation in TPRS1 gene caused tricho-rhino-phalangeal syndrome in a Chinese patient with severe osteoporosis / 中华医学杂志(英文版)
Chinese Medical Journal ; (24): 1583-1585, 2011.
Article in English | WPRIM | ID: wpr-353939
ABSTRACT
Tricho-rhino-phalangeal syndrome (TRPS) was first reported in 1966. Although mutation of TRPS1 gene is considered to be responsible for the syndromes in 2000, investigation of bone metabolism and changes of serum insulin-like growth factor (IGF)-1 level in this kind of patients is rare. Here, we report a patient with TRPS I (MIM 190350) presenting a novel mutation (1096insA) and abnormal changes of severe osteoporosis as well as low serum IGF-I level.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Osteoporosis / Transcription Factors / Langer-Giedion Syndrome / DNA-Binding Proteins / Genetics / Mutation Limits: Adolescent / Humans / Male Language: English Journal: Chinese Medical Journal Year: 2011 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Osteoporosis / Transcription Factors / Langer-Giedion Syndrome / DNA-Binding Proteins / Genetics / Mutation Limits: Adolescent / Humans / Male Language: English Journal: Chinese Medical Journal Year: 2011 Type: Article