Matches in SemOpenAlex for { <https://semopenalex.org/work/W2275552146> ?p ?o ?g. }
- W2275552146 endingPage "699" @default.
- W2275552146 startingPage "681" @default.
- W2275552146 abstract "Skeletal dysplasias are a heterogeneous group of disorders characterized by skeletal deformities and short stature. The approach to prenatal diagnosis in which a fetus is subjected to analysis because of a pre-existing condition (skeletal dysplasia or connective tissue disorder) in a parent or previous offspring is relatively straightforward. Expert review of themorphologic sonographic data plays a pivotal role in the diagnosis of skeletal dysplasias. When providing genetic counseling prior to pregnancy or in the presence of abnormal fetal morphology, it is helpful not only to look for signs of a specific diagnosis, but also to consider the underlying genetic mechanisms. Mutations in the fibroblast growth factor receptor 3 gene (FGFR3) are responsible for the most common skeletal dysplasia family as well as isolated craniosynostosis. The chapter also discusses osteogenesis imperfecta (OI), type II collagen mutations, mutations in the diastrophic dysplasia sulphate transporter gene, the Larsen and Marfan syndromes." @default.
- W2275552146 created "2016-06-24" @default.
- W2275552146 creator A5012342703 @default.
- W2275552146 creator A5025916343 @default.
- W2275552146 date "2015-10-23" @default.
- W2275552146 modified "2023-09-23" @default.
- W2275552146 title "Prenatal Diagnosis of Skeletal Dysplasias and Connective Tissue Disorders" @default.
- W2275552146 cites W119674663 @default.
- W2275552146 cites W1482220501 @default.
- W2275552146 cites W1531642418 @default.
- W2275552146 cites W1532662252 @default.
- W2275552146 cites W1555248386 @default.
- W2275552146 cites W1564906502 @default.
- W2275552146 cites W1571399449 @default.
- W2275552146 cites W1967485093 @default.
- W2275552146 cites W1974669154 @default.
- W2275552146 cites W1976686787 @default.
- W2275552146 cites W1977103053 @default.
- W2275552146 cites W1978525332 @default.
- W2275552146 cites W1982571067 @default.
- W2275552146 cites W1983321321 @default.
- W2275552146 cites W1986671812 @default.
- W2275552146 cites W1987174149 @default.
- W2275552146 cites W1988348822 @default.
- W2275552146 cites W1991317272 @default.
- W2275552146 cites W1991674661 @default.
- W2275552146 cites W1992183841 @default.
- W2275552146 cites W1997857542 @default.
- W2275552146 cites W1999559618 @default.
- W2275552146 cites W2006852694 @default.
- W2275552146 cites W2010795274 @default.
- W2275552146 cites W2012024701 @default.
- W2275552146 cites W2012823121 @default.
- W2275552146 cites W2016755309 @default.
- W2275552146 cites W2018147908 @default.
- W2275552146 cites W2022059976 @default.
- W2275552146 cites W2022757318 @default.
- W2275552146 cites W2023394137 @default.
- W2275552146 cites W2025911304 @default.
- W2275552146 cites W2027739263 @default.
- W2275552146 cites W2030409202 @default.
- W2275552146 cites W2031450010 @default.
- W2275552146 cites W2031665650 @default.
- W2275552146 cites W2031913358 @default.
- W2275552146 cites W2034140040 @default.
- W2275552146 cites W2036851890 @default.
- W2275552146 cites W2036929614 @default.
- W2275552146 cites W2037504108 @default.
- W2275552146 cites W2038169922 @default.
- W2275552146 cites W2042222199 @default.
- W2275552146 cites W2044216375 @default.
- W2275552146 cites W2044532264 @default.
- W2275552146 cites W2046159839 @default.
- W2275552146 cites W2046168658 @default.
- W2275552146 cites W2046282877 @default.
- W2275552146 cites W2049426957 @default.
- W2275552146 cites W2050814353 @default.
- W2275552146 cites W2053022730 @default.
- W2275552146 cites W2055935604 @default.
- W2275552146 cites W2056347820 @default.
- W2275552146 cites W2058000923 @default.
- W2275552146 cites W2059450441 @default.
- W2275552146 cites W2060432942 @default.
- W2275552146 cites W2061309557 @default.
- W2275552146 cites W2061438656 @default.
- W2275552146 cites W2066162631 @default.
- W2275552146 cites W2069795816 @default.
- W2275552146 cites W2070818261 @default.
- W2275552146 cites W2073358045 @default.
- W2275552146 cites W2074284216 @default.
- W2275552146 cites W2076029866 @default.
- W2275552146 cites W2076737381 @default.
- W2275552146 cites W2078780455 @default.
- W2275552146 cites W2085016790 @default.
- W2275552146 cites W2091057629 @default.
- W2275552146 cites W2095104340 @default.
- W2275552146 cites W2096072612 @default.
- W2275552146 cites W2096504339 @default.
- W2275552146 cites W2099431176 @default.
- W2275552146 cites W2103695168 @default.
- W2275552146 cites W2104984046 @default.
- W2275552146 cites W2108311888 @default.
- W2275552146 cites W2109004012 @default.
- W2275552146 cites W2115118303 @default.
- W2275552146 cites W2117713745 @default.
- W2275552146 cites W2122701115 @default.
- W2275552146 cites W2124808024 @default.
- W2275552146 cites W2128549926 @default.
- W2275552146 cites W2137579812 @default.
- W2275552146 cites W2140583029 @default.
- W2275552146 cites W2141041170 @default.
- W2275552146 cites W2143752352 @default.
- W2275552146 cites W2145689898 @default.
- W2275552146 cites W2146269990 @default.
- W2275552146 cites W2146979392 @default.
- W2275552146 cites W2147198342 @default.
- W2275552146 cites W2162561370 @default.
- W2275552146 cites W2162583923 @default.