{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:36:05Z","timestamp":1786977365710,"version":"build-2736575974"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,9,15]],"date-time":"2014-09-15T00:00:00Z","timestamp":1410739200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:title>Key Clinical Message<\/jats:title>\n                  <jats:p>\n                    We report on three related Congolese popliteal pterygium syndrome (\n                    <jats:styled-content style=\"fixed-case\">PPS<\/jats:styled-content>\n                    ) patients concordant only for the skinfold over the toenail. Mutation analysis revealed that the three affected individuals carried a heterozygous missense mutation in the Exon 4,\n                    <jats:styled-content style=\"fixed-case\">NM<\/jats:styled-content>\n                    _006147.2:c.250C&gt;T; p.Arg84Cys. This is the first molecularly confirmed\n                    <jats:styled-content style=\"fixed-case\">PPS<\/jats:styled-content>\n                    family from central Africa.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.101","type":"journal-article","created":{"date-parts":[[2014,9,15]],"date-time":"2014-09-15T07:06:18Z","timestamp":1410764778000},"page":"250-253","source":"Crossref","is-referenced-by-count":6,"title":["Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability"],"prefix":"10.1002","volume":"2","author":[{"given":"Gerrye","family":"Mubungu","sequence":"first","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine University of Kinshasa Democratic Republic of the Congo"},{"name":"Center for Human Genetics Faculty of Medicine University of Kinshasa Democratic Republic of the Congo"},{"name":"Institut National de Recherche Biom\u00e9dicale Democratic Republic of the Congo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aim\u00e9","family":"Lumaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine University of Kinshasa Democratic Republic of the Congo"},{"name":"Center for Human Genetics Faculty of Medicine University of Kinshasa Democratic Republic of the Congo"},{"name":"Institut National de Recherche Biom\u00e9dicale Democratic Republic of the Congo"},{"name":"Center for Human Genetics Catholic University of Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosette","family":"Matondo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine University of Kinshasa Democratic Republic of the Congo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gloire","family":"Mbayabo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine University of Kinshasa Democratic Republic of the Congo"},{"name":"Center for Human Genetics Faculty of Medicine University of Kinshasa Democratic Republic of the Congo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Tuka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine University of Kinshasa Democratic Republic of the Congo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudarche","family":"Kayembe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine University of Kinshasa Democratic Republic of the Congo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didier","family":"Mulowhe","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging Faculty of Medicine University of Kinshasa Democratic Republic of the Congo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Molua","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging Faculty of Medicine University of Kinshasa Democratic Republic of the Congo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno\u2010Paul","family":"Tady","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine University of Kinshasa Democratic Republic of the Congo"},{"name":"Center for Human Genetics Faculty of Medicine University of Kinshasa Democratic Republic of the Congo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Nkidiaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine University of Kinshasa Democratic Republic of the 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Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,9,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.66"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318197a49a"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32257"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.08.006"},{"key":"e_1_2_6_6_1","volume-title":"GeneReviews","author":"Durda K. 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