Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism Acromelic frontonasal dysostosis and ZSWIM6 mutation
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| Published in | Clinical genetics Vol. 90; no. 3; pp. 270 - 275 |
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| Main Authors | , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
01.09.2016
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| Online Access | Get full text |
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| Author | Bak, G.S Elalaoui, S.C. Ousager, L.B. Miller, K.A. Sefiani, A. Fagerberg, C.R. Hove, H. Twigg, S.R.F. Tajir, M. Wilkie, A.O.M. Hansen, L.K. Zhou, Y. |
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| Cites_doi | 10.1002/(SICI)1096-8628(19990312)83:2<109::AID-AJMG6>3.0.CO;2-8 10.1016/S0968-0004(02)02140-0 10.1002/humu.22819 10.1002/ajmg.1320420209 10.1016/S0022-3476(70)80374-2 10.1002/ajmg.1320460402 10.1002/ajmg.a.30091 10.1111/cge.12357 10.1016/0002-9394(71)91615-1 10.1016/j.ajhg.2009.04.009 10.1002/tera.1420080307 10.1186/1471-2407-14-13 10.1016/j.ajhg.2014.07.008 |
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| References | Makarova (10.1111/cge.12721-BIB0011|cge12721-cit-0011) 2002; 27 Hasegawa (10.1111/cge.12721-BIB0013|cge12721-cit-0013) 2015; 87 Calli (10.1111/cge.12721-BIB0009|cge12721-cit-0009) 1971; 7 Twigg (10.1111/cge.12721-BIB0014|cge12721-cit-0014) 2009; 84 Hing (10.1111/cge.12721-BIB0005|cge12721-cit-0005) 2004; 128A Ihle (10.1111/cge.12721-BIB0007|cge12721-cit-0007) 2014; 14 Warkany (10.1111/cge.12721-BIB0010|cge12721-cit-0010) 1973; 8 Xu (10.1111/cge.12721-BIB0012|cge12721-cit-0012) 2015; 36 Sedano (10.1111/cge.12721-BIB0001|cge12721-cit-0001) 1970; 76 Smith (10.1111/cge.12721-BIB0006|cge12721-cit-0006) 2014; 95 Slaney (10.1111/cge.12721-BIB0004|cge12721-cit-0004) 1999; 83 Verloes (10.1111/cge.12721-BIB0002|cge12721-cit-0002) 1992; 42 Sueldo (10.1111/cge.12721-BIB0003|cge12721-cit-0003) 1993; 46 Edwards (10.1111/cge.12721-BIB0008|cge12721-cit-0008) 1971; 72 |
| References_xml | – volume: 83 start-page: 109 year: 1999 ident: 10.1111/cge.12721-BIB0004|cge12721-cit-0004 article-title: Acromelic frontonasal dysostosis publication-title: Am J Med Genet doi: 10.1002/(SICI)1096-8628(19990312)83:2<109::AID-AJMG6>3.0.CO;2-8 contributor: fullname: Slaney – volume: 27 start-page: 384 year: 2002 ident: 10.1111/cge.12721-BIB0011|cge12721-cit-0011 article-title: SWIM, a novel Zn-chelating domain present in bacteria, archaea and eukaryotes publication-title: Trends Biochem Sci doi: 10.1016/S0968-0004(02)02140-0 contributor: fullname: Makarova – volume: 36 start-page: 861 year: 2015 ident: 10.1111/cge.12721-BIB0012|cge12721-cit-0012 article-title: Amplicon resequencing identified parental mosaicism for approximately 10% of "de novo" SCN1A mutations in children with Dravet syndrome publication-title: Hum Mutat doi: 10.1002/humu.22819 contributor: fullname: Xu – volume: 42 start-page: 180 year: 1992 ident: 10.1111/cge.12721-BIB0002|cge12721-cit-0002 article-title: Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome) publication-title: Am J Med Genet doi: 10.1002/ajmg.1320420209 contributor: fullname: Verloes – volume: 76 start-page: 906 year: 1970 ident: 10.1111/cge.12721-BIB0001|cge12721-cit-0001 article-title: Frontonasal dysplasia publication-title: J Pediatr doi: 10.1016/S0022-3476(70)80374-2 contributor: fullname: Sedano – volume: 46 start-page: 355 year: 1993 ident: 10.1111/cge.12721-BIB0003|cge12721-cit-0003 article-title: Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: severe expression of the acrocallosal syndrome? publication-title: Am J Med Genet doi: 10.1002/ajmg.1320460402 contributor: fullname: Sueldo – volume: 128A start-page: 374 year: 2004 ident: 10.1111/cge.12721-BIB0005|cge12721-cit-0005 article-title: Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance publication-title: Am J Med Genet doi: 10.1002/ajmg.a.30091 contributor: fullname: Hing – volume: 87 start-page: 279 year: 2015 ident: 10.1111/cge.12721-BIB0013|cge12721-cit-0013 article-title: Mosaic KCNJ2 mutation in Andersen-Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism publication-title: Clin Genet doi: 10.1111/cge.12357 contributor: fullname: Hasegawa – volume: 7 start-page: 268 year: 1971 ident: 10.1111/cge.12721-BIB0009|cge12721-cit-0009 article-title: Ocular hypertelorism and nasal agenesis (midface syndrome) with limb anomalies publication-title: Birth Defects Orig Artic Ser contributor: fullname: Calli – volume: 72 start-page: 202 year: 1971 ident: 10.1111/cge.12721-BIB0008|cge12721-cit-0008 article-title: Median cleft face syndrome publication-title: Am J Ophthalmol doi: 10.1016/0002-9394(71)91615-1 contributor: fullname: Edwards – volume: 84 start-page: 698 year: 2009 ident: 10.1111/cge.12721-BIB0014|cge12721-cit-0014 article-title: Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2009.04.009 contributor: fullname: Twigg – volume: 8 start-page: 273 year: 1973 ident: 10.1111/cge.12721-BIB0010|cge12721-cit-0010 article-title: Median facial cleft syndrome in half-sisters. Dilemmas in genetic counseling publication-title: Teratology doi: 10.1002/tera.1420080307 contributor: fullname: Warkany – volume: 14 start-page: 13 year: 2014 ident: 10.1111/cge.12721-BIB0007|cge12721-cit-0007 article-title: Comparison of high resolution melting analysis, pyrosequencing, next generation sequencing and immunohistochemistry to conventional Sanger sequencing for the detection of p.V600E and non-p.V600E BRAF mutations publication-title: BMC Cancer doi: 10.1186/1471-2407-14-13 contributor: fullname: Ihle – volume: 95 start-page: 235 year: 2014 ident: 10.1111/cge.12721-BIB0006|cge12721-cit-0006 article-title: Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2014.07.008 contributor: fullname: Smith |
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