2015
DOI: 10.4149/bll_2015_087
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Improvement of molecular-genetic diagnostics of the most common skeletal dysplasias

Abstract: OBJECTIVES: The aim of this study was to take the molecular-genetic methods for detection of the most frequent mutations in patients suspected for achondroplasia (ACH) and hypochondroplasia (HCH) into the routine practice. BACKGROUND: Both disorders are usually caused by de novo gain-of-function type mutations in FGFR3 gene encoding the fi broblast growth factor receptor 3, which plays an important role in the metabolism of connective tissues. More than 99 % of ACH cases are caused by the glycine-to-arginine s… Show more

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Cited by 2 publications
(1 citation statement)
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“…The diagnosis of HCH is suspected on clinical grounds of short stature, a height prediction inappropriate for the family, and in some cases by diminution of the pubertal growth spurt and confirmed by several distinctive radiologic findings, such as brachydactyly, metaphyseal flaring, shortening of the pedicles of the vertebrae, lack of increase in interpedicular distance between lumbar vertebrae L1 and L5, square iliae, short femoral necks, and short tubular bones. [5,2123]…”
Section: Discussionmentioning
confidence: 99%
“…The diagnosis of HCH is suspected on clinical grounds of short stature, a height prediction inappropriate for the family, and in some cases by diminution of the pubertal growth spurt and confirmed by several distinctive radiologic findings, such as brachydactyly, metaphyseal flaring, shortening of the pedicles of the vertebrae, lack of increase in interpedicular distance between lumbar vertebrae L1 and L5, square iliae, short femoral necks, and short tubular bones. [5,2123]…”
Section: Discussionmentioning
confidence: 99%