Sökning: onr:"swepub:oai:lup.lub.lu.se:49f52110-ad19-426b-ad84-96779cc945b2" > Molecular Analysis ...
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000 | 05122naa a2200985 4500 | |
001 | oai:lup.lub.lu.se:49f52110-ad19-426b-ad84-96779cc945b2 | |
003 | SwePub | |
008 | 160401s2010 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/17271652 URI |
024 | 7 | a https://doi.org/10.1002/humu.213282 DOI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Johnston, Jennifer J.4 aut |
245 | 1 0 | a Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations |
264 | c 2010-07-29 | |
264 | 1 | b Hindawi Limited,c 2010 |
520 | a A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial- digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable degree of severity than previously recognized. The finding of GLI3 mutations in patients with features of oral-facial-digital syndrome supports the observation that GLI3 interacts with cilia. We conclude that the phenotypic spectrum of GLI3 mutations is broader than that encompassed by the clinical diagnostic criteria, but the genotype-phenotype correlation persists. Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria. Hum Mutat 31:1142-1154, 2010. (C) 2010 Wiley-Liss, Inc. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
653 | a Pallister-Hall syndrome | |
653 | a GLI3 | |
653 | a Greig syndrome | |
653 | a oral-facial-digital | |
653 | a syndrome | |
700 | 1 | a Sapp, Julie C.4 aut |
700 | 1 | a Turner, Joyce T.4 aut |
700 | 1 | a Amor, David4 aut |
700 | 1 | a Aftimos, Salim4 aut |
700 | 1 | a Aleck, Kyrieckos A.4 aut |
700 | 1 | a Bocian, Maureen4 aut |
700 | 1 | a Bodurtha, Joann N.4 aut |
700 | 1 | a Cox, Gerald F.4 aut |
700 | 1 | a Curry, Cynthia J.4 aut |
700 | 1 | a Day, Ruth4 aut |
700 | 1 | a Donnai, Dian4 aut |
700 | 1 | a Field, Michael4 aut |
700 | 1 | a Fujiwara, Ikuma4 aut |
700 | 1 | a Gabbett, Michael4 aut |
700 | 1 | a Gal, Moran4 aut |
700 | 1 | a Graham, John M., Jr.4 aut |
700 | 1 | a Hedera, Peter4 aut |
700 | 1 | a Hennekam, Raoul C. M.4 aut |
700 | 1 | a Hersh, Joseph H.4 aut |
700 | 1 | a Hopkin, Robert J.4 aut |
700 | 1 | a Kayserili, Hulya4 aut |
700 | 1 | a Kidd, Alexa M. J.4 aut |
700 | 1 | a Kimonis, Virginia4 aut |
700 | 1 | a Lin, Angela E.4 aut |
700 | 1 | a Lynch, Sally Ann4 aut |
700 | 1 | a Maisenbacher, Melissa4 aut |
700 | 1 | a Mansour, Sahar4 aut |
700 | 1 | a McGaughran, Julie4 aut |
700 | 1 | a Mehta, Lakshmi4 aut |
700 | 1 | a Murphy, Helen4 aut |
700 | 1 | a Raygada, Margarita4 aut |
700 | 1 | a Robin, Nathaniel H.4 aut |
700 | 1 | a Rope, Alan F.4 aut |
700 | 1 | a Rosenbaum, Kenneth N.4 aut |
700 | 1 | a Schaefer, G. Bradley4 aut |
700 | 1 | a Shealy, Amy4 aut |
700 | 1 | a Smith, Wendy4 aut |
700 | 1 | a Soller, Mariau Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)kgen-mso |
700 | 1 | a Sommer, Annmarie4 aut |
700 | 1 | a Stalker, Heather J.4 aut |
700 | 1 | a Steiner, Bernhard4 aut |
700 | 1 | a Stephan, Mark J.4 aut |
700 | 1 | a Tilstra, David4 aut |
700 | 1 | a Tomkins, Susan4 aut |
700 | 1 | a Trapane, Pamela4 aut |
700 | 1 | a Tsai, Anne Chun-Hui4 aut |
700 | 1 | a Van Allen, Margot I.4 aut |
700 | 1 | a Vasudevan, Pradeep C.4 aut |
700 | 1 | a Zabel, Bernhard4 aut |
700 | 1 | a Zunich, Janice4 aut |
700 | 1 | a Black, Graeme C. M.4 aut |
700 | 1 | a Biesecker, Leslie G.4 aut |
710 | 2 | a Avdelningen för klinisk genetikb Institutionen för laboratoriemedicin4 org |
773 | 0 | t Human Mutationd : Hindawi Limitedg 31:10, s. 1142-1154q 31:10<1142-1154x 1059-7794 |
856 | 4 | u http://dx.doi.org/10.1002/humu.21328y FULLTEXT |
856 | 4 | u https://europepmc.org/articles/pmc2947617?pdf=render |
856 | 4 8 | u https://lup.lub.lu.se/record/1727165 |
856 | 4 8 | u https://doi.org/10.1002/humu.21328 |
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