Matches in SemOpenAlex for { <https://semopenalex.org/work/W2045304058> ?p ?o ?g. }
- W2045304058 endingPage "819" @default.
- W2045304058 startingPage "810" @default.
- W2045304058 abstract "The main features of Silver-Russell syndrome (SRS) are pre- and postnatal growth restriction and a characteristic small, triangular face. SRS is also accompanied by other dysmorphic features including fifth finger clinodactyly and skeletal asymmetry. The disorder is clinically and genetically heterogeneous, and various modes of inheritance and abnormalities involving chromosomes 7, 8, 15, 17, and 18 have been associated with SRS and SRS-like cases. However, only chromosomes 7 and 17 have been consistently implicated in patients with a strict clinical diagnosis of SRS. Two cases of balanced translocations with breakpoints in 17q23.3-q25 and two cases with a hemizygous deletion of the chorionic somatomammatropin gene (CSH1) on 17q24.1 have been associated with SRS, strongly implicating this region. Maternal uniparental disomy for chromosome 7 (mUPD(7)) occurs in up to 10% of SRS patients, with disruption of genomic imprinting underlying the disease status in these cases. Recently, two SRS patients with a maternal duplication of 7p11.2-p13, and a single proband with segmental mUPD for the region 7q31-qter, were described. These key patients define two separate candidate regions for SRS on both the p and q arms of chromosome 7. Both the 7p11.2-p13 and 7q31-qter regions are subject to genomic imprinting and the homologous regions in the mouse are associated with imprinted growth phenotypes. This review provides an overview of the genetics of SRS, and focuses on the newly defined candidate regions on chromosome 7. The analyses of imprinted candidate genes within 7p11.2-p13 and 7q31-qter, and gene candidates on distal 17q, are discussed." @default.
- W2045304058 created "2016-06-24" @default.
- W2045304058 creator A5028228166 @default.
- W2045304058 creator A5052688580 @default.
- W2045304058 creator A5083863816 @default.
- W2045304058 creator A5084003492 @default.
- W2045304058 date "2001-12-01" @default.
- W2045304058 modified "2023-10-18" @default.
- W2045304058 title "Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions" @default.
- W2045304058 cites W1502331465 @default.
- W2045304058 cites W1515636671 @default.
- W2045304058 cites W1552460297 @default.
- W2045304058 cites W155481001 @default.
- W2045304058 cites W1558459060 @default.
- W2045304058 cites W1562004022 @default.
- W2045304058 cites W1588409425 @default.
- W2045304058 cites W1590914074 @default.
- W2045304058 cites W1600589392 @default.
- W2045304058 cites W1772199497 @default.
- W2045304058 cites W1792586578 @default.
- W2045304058 cites W1812913066 @default.
- W2045304058 cites W1964081519 @default.
- W2045304058 cites W1964990921 @default.
- W2045304058 cites W1968322499 @default.
- W2045304058 cites W1971498717 @default.
- W2045304058 cites W1971536798 @default.
- W2045304058 cites W1972338283 @default.
- W2045304058 cites W1972578082 @default.
- W2045304058 cites W1973254820 @default.
- W2045304058 cites W1982318108 @default.
- W2045304058 cites W1982940589 @default.
- W2045304058 cites W1983028314 @default.
- W2045304058 cites W1985060359 @default.
- W2045304058 cites W1987936466 @default.
- W2045304058 cites W1991074293 @default.
- W2045304058 cites W1991325589 @default.
- W2045304058 cites W1995326267 @default.
- W2045304058 cites W1997444325 @default.
- W2045304058 cites W1997536319 @default.
- W2045304058 cites W1998867972 @default.
- W2045304058 cites W2000819178 @default.
- W2045304058 cites W2000913970 @default.
- W2045304058 cites W2001721754 @default.
- W2045304058 cites W2002036205 @default.
- W2045304058 cites W2002467316 @default.
- W2045304058 cites W2007214149 @default.
- W2045304058 cites W2007894922 @default.
- W2045304058 cites W2007925241 @default.
- W2045304058 cites W2008403511 @default.
- W2045304058 cites W2011354757 @default.
- W2045304058 cites W2017247325 @default.
- W2045304058 cites W2020998510 @default.
- W2045304058 cites W2021027670 @default.
- W2045304058 cites W2022414754 @default.
- W2045304058 cites W2024153969 @default.
- W2045304058 cites W2028477931 @default.
- W2045304058 cites W2040318547 @default.
- W2045304058 cites W2042056029 @default.
- W2045304058 cites W2042837697 @default.
- W2045304058 cites W2047968222 @default.
- W2045304058 cites W2049682941 @default.
- W2045304058 cites W2064866392 @default.
- W2045304058 cites W2066022135 @default.
- W2045304058 cites W2067181161 @default.
- W2045304058 cites W2069583030 @default.
- W2045304058 cites W2070383569 @default.
- W2045304058 cites W2072514327 @default.
- W2045304058 cites W2073060266 @default.
- W2045304058 cites W2076022676 @default.
- W2045304058 cites W2077388231 @default.
- W2045304058 cites W2077397396 @default.
- W2045304058 cites W2081064915 @default.
- W2045304058 cites W2082608721 @default.
- W2045304058 cites W2088435866 @default.
- W2045304058 cites W2088943598 @default.
- W2045304058 cites W2089889881 @default.
- W2045304058 cites W2090479015 @default.
- W2045304058 cites W2092267440 @default.
- W2045304058 cites W2098867221 @default.
- W2045304058 cites W2102277969 @default.
- W2045304058 cites W2102749853 @default.
- W2045304058 cites W2106622649 @default.
- W2045304058 cites W2112465782 @default.
- W2045304058 cites W2114669518 @default.
- W2045304058 cites W2123510998 @default.
- W2045304058 cites W2130235900 @default.
- W2045304058 cites W2130351799 @default.
- W2045304058 cites W2131420481 @default.
- W2045304058 cites W2133636341 @default.
- W2045304058 cites W2135311721 @default.
- W2045304058 cites W2144536701 @default.
- W2045304058 cites W2152147108 @default.
- W2045304058 cites W2157114674 @default.
- W2045304058 cites W2159149561 @default.
- W2045304058 cites W2164033269 @default.
- W2045304058 cites W2166212262 @default.
- W2045304058 cites W2168651643 @default.
- W2045304058 cites W2291591520 @default.