{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T00:20:32Z","timestamp":1707524432092},"reference-count":12,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,12,20]]},"DOI":"10.7759\/cureus.20543","type":"journal-article","created":{"date-parts":[[2021,12,20]],"date-time":"2021-12-20T19:14:53Z","timestamp":1640027693000},"source":"Crossref","is-referenced-by-count":0,"title":["A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report"],"prefix":"10.7759","author":[{"given":"Aiman  M","family":"Shawli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdulaziz  T","family":"Nazer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasir","family":"Khayyat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed  G","family":"Alqurashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fahad","family":"Hakami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03195717","article-title":"Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India","volume":"51","author":"Phadke SR","year":"2010","unstructured":"Phadke SR, Gupta N, Girisha KM, et al.. Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. J Appl Genet. 2010, 51:107-10. 10.1007\/BF03195717","journal-title":"J Appl Genet"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb02912.x","article-title":"Birth prevalence rates of skeletal dysplasias","volume":"35","author":"Stoll C","year":"1989","unstructured":"Stoll C, Dott B, Roth MP, Alembik Y. Birth prevalence rates of skeletal dysplasias. Clin Genet. 1989, 35:88-92. 10.1111\/j.1399-0004.1989.tb02912.x","journal-title":"Clin Genet"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37961","article-title":"Growth charts for individuals with rhizomelic chondrodysplasia punctata","volume":"173","author":"Duker AL","year":"2017","unstructured":"Duker AL, Niiler T, Eldridge G, Brereton NH, Braverman NE, Bober MB. Growth charts for individuals with rhizomelic chondrodysplasia punctata. Am J Med Genet A. 2017, 173:108-13. 10.1002\/ajmg.a.37961","journal-title":"Am J Med Genet A"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv305","article-title":"A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform","volume":"24","author":"Bar\u00f8y T","year":"2015","unstructured":"Bar\u00f8y T, Koster J, Str\u00f8mme P, et al.. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Hum Mol Genet. 2015, 24:5845-54. 10.1093\/hmg\/ddv305","journal-title":"Hum Mol Genet"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21623","article-title":"Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3","volume":"33","author":"Itzkovitz B","year":"2012","unstructured":"Itzkovitz B, Jiralerspong S, Nimmo G, et al.. Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. Hum Mutat. 2012, 33:189-97. 10.1002\/humu.21623","journal-title":"Hum Mutat"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.2.127","article-title":"Impaired membrane traffic in defective ether lipid biosynthesis","volume":"10","author":"Thai TP","year":"2001","unstructured":"Thai TP, Rodemer C, Jauch A, Hunziker A, Moser A, Gorgas K, Just WW. Impaired membrane traffic in defective ether lipid biosynthesis. Hum Mol Genet. 2001, 10:127-36. 10.1093\/hmg\/10.2.127","journal-title":"Hum Mol Genet"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.17.10296","article-title":"Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency","volume":"273","author":"de Vet EC","year":"1998","unstructured":"de Vet EC, Ijlst L, Oostheim W, Wanders RJ, van den Bosch H. Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency. J Biol Chem. 1998, 273:10296-301. 10.1074\/jbc.273.17.10296","journal-title":"J Biol Chem"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.39","article-title":"Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation","volume":"59","author":"Noguchi M","year":"2014","unstructured":"Noguchi M, Honsho M, Abe Y, et al.. Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation. J Hum Genet. 2014, 59:387-92. 10.1038\/jhg.2014.39","journal-title":"J Hum Genet"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)32423-8","article-title":"Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities","volume":"40","author":"de Vet EC","year":"1999","unstructured":"de Vet EC, Ijlst L, Oostheim W, Dekker C, Moser HW, van Den Bosch H, Wanders RJ. Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities. J Lipid Res. 1999, 40:1998-2003. 10.1016\/S0022-2275(20)32423-8","journal-title":"J Lipid Res"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/ng0497-369","article-title":"Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata","volume":"15","author":"Braverman N","year":"1997","unstructured":"Braverman N, Steel G, Obie C, Moser A, Moser H, Gould SJ, Valle D. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet. 1997, 15:369-76. 10.1038\/ng0497-369","journal-title":"Nat Genet"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/ng0497-377","article-title":"Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor","volume":"15","author":"Motley AM","year":"1997","unstructured":"Motley AM, Hettema EH, Hogenhout EM, et al.. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nat Genet. 1997, 15:377-80. 10.1038\/ng0497-377","journal-title":"Nat Genet"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20009","article-title":"Natural history of rhizomelic chondrodysplasia punctata","volume":"118A","author":"White AL","year":"2003","unstructured":"White AL, Modaff P, Holland-Morris F, Pauli RM. Natural history of rhizomelic chondrodysplasia punctata. Am J Med Genet A. 2003, 118A:332-42. 10.1002\/ajmg.a.20009","journal-title":"Am J Med Genet A"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/79133-a-novel-variant-in-the-agps-gene-causes-the-rare-rhizomelic-chondrodysplasia-punctata-type-3-a-case-report","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T19:34:49Z","timestamp":1707507289000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/79133-a-novel-variant-in-the-agps-gene-causes-the-rare-rhizomelic-chondrodysplasia-punctata-type-3-a-case-report"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,20]]},"references-count":12,"URL":"https:\/\/doi.org\/10.7759\/cureus.20543","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2021,12,20]]}}}