Abstract | OBJECTIVES: METHODS: Genetic analysis of the TGFbeta1 gene revealed a heterozygous missense mutation p.R218C in exon 4 of chromosome 19q13.1-q13.3 in a 14-year-old girl who presented with typical symptoms of CED, hyperprolactinaemia, and menstrual irregularity. RESULTS: CONCLUSIONS: The role of p.R218C in TGFbeta1 on the mechanism of the disease, and the complications of it in bones and endocrine glands, remains unclear. Early recognition as well as a detailed understanding of the pathogenesis of the disease are important for future treatment options and a better quality of life of such patients.
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Authors | Meropi Toumba, Vassos Neocleous, Christos Shammas, Violetta Anastasiadou, Jeremy Allgrove, Leonidas A Phylactou, Nicos Skordis |
Journal | Journal of pediatric endocrinology & metabolism : JPEM
(J Pediatr Endocrinol Metab)
Vol. 26
Issue 11-12
Pg. 1189-95
( 2013)
ISSN: 2191-0251 [Electronic] Germany |
PMID | 23846138
(Publication Type: Journal Article)
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Chemical References |
- Transforming Growth Factor beta1
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Topics |
- Adolescent
- Bone and Bones
(diagnostic imaging, metabolism)
- Camurati-Engelmann Syndrome
(genetics, metabolism)
- Endocrine Glands
(metabolism)
- Female
- Humans
- Mutation, Missense
- Radiography
- Transforming Growth Factor beta1
(genetics)
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