{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,25]],"date-time":"2024-02-25T20:41:49Z","timestamp":1708893709987},"reference-count":17,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,9,21]]},"DOI":"10.7759\/cureus.29387","type":"journal-article","created":{"date-parts":[[2022,9,21]],"date-time":"2022-09-21T07:41:52Z","timestamp":1663746112000},"source":"Crossref","is-referenced-by-count":1,"title":["A Novel PGAP3 Gene Mutation-Related Megalocornea Can Be Misdiagnosed as Primary Congenital Glaucoma"],"prefix":"10.7759","author":[{"given":"Abdulmajeed I","family":"Alhaidari","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amani S","family":"Albakri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suzan S","family":"Alhumaidi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.2183\/pjab.90.130","article-title":"Biosynthesis and deficiencies of glycosylphosphatidylinositol","volume":"90","author":"Kinoshita T","year":"2014","unstructured":"Kinoshita T. Biosynthesis and deficiencies of glycosylphosphatidylinositol. Proc Jpn Acad Ser B Phys Biol Sci. 2014, 90:130-143. 10.2183\/pjab.90.130","journal-title":"Proc Jpn Acad Ser B Phys Biol Sci"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(70)80047-6","article-title":"Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits","volume":"77","author":"Mabry CC","year":"1970","unstructured":"Mabry CC, Bautista A, Kirk RF, Dubilier LD, Braunstein H, Koepke JA. Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits. J Pediatr. 1970, 77:74-85. 10.1016\/s0022-3476(70)80047-6","journal-title":"J Pediatr"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.12.012","article-title":"Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation","volume":"94","author":"Howard MF","year":"2014","unstructured":"Howard MF, Murakami Y, Pagnamenta AT, et al.. Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. Am J Hum Genet. 2014, 94:278-287. 10.1016\/j.ajhg.2013.12.012","journal-title":"Am J Hum Genet"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40627","article-title":"Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin","volume":"176","author":"Balobaid A","year":"2018","unstructured":"Balobaid A, Ben-Omran T, Ramzan K, et al.. Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin. Am J Med Genet A. 2018, 176:2850-2857. 10.1002\/ajmg.a.40627","journal-title":"Am J Med Genet A"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1186\/s13000-019-0902-5","article-title":"Clinical, genetic, and molecular characterization of hyperphosphatasia with mental retardation: a case report and literature review","volume":"14","author":"Abi Farraj L","year":"2019","unstructured":"Abi Farraj L, Khatoun WD, Abou Chebel N, Wakim V, Dawali K, Ghassibe-Sabbagh M. Clinical, genetic, and molecular characterization of hyperphosphatasia with mental retardation: a case report and literature review. Diagn Pathol. 2019, 14:123. 10.1186\/s13000-019-0902-5","journal-title":"Diagn Pathol"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.3390\/cells9081782","article-title":"PGAP3 associated with hyperphosphatasia with mental retardation plays a novel role in brain morphogenesis and neuronal wiring at early development","volume":"9","author":"Da'as SI","year":"2020","unstructured":"Da'as SI, Aamer W, Hasan W, et al.. PGAP3 associated with hyperphosphatasia with mental retardation plays a novel role in brain morphogenesis and neuronal wiring at early development. Cells. 2020, 9:1782. 10.3390\/cells9081782","journal-title":"Cells"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2018.5","article-title":"A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum","volume":"5","author":"Sakaguchi T","year":"2018","unstructured":"Sakaguchi T, \u017digman T, Petkovi\u0107 Ramad\u017ea D, et al.. A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum. Hum Genome Var. 2018, 5:18005. 10.1038\/hgv.2018.5","journal-title":"Hum Genome Var"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23006","article-title":"Rare noncoding mutations extend the mutational spectrum in the PGAP3 subtype of hyperphosphatasia with mental retardation syndrome","volume":"37","author":"Knaus A","year":"2016","unstructured":"Knaus A, Awaya T, Helbig I, et al.. Rare noncoding mutations extend the mutational spectrum in the PGAP3 subtype of hyperphosphatasia with mental retardation syndrome. Hum Mutat. 2016, 37:737-744. 10.1002\/humu.23006","journal-title":"Hum Mutat"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.09.002","article-title":"Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum","volume":"62","author":"Akg\u00fcn Do\u011fan \u00d6","year":"2019","unstructured":"Akg\u00fcn Do\u011fan \u00d6, Demir G\u00dc, Kosukcu C, et al.. Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum. Eur J Med Genet. 2019, 62:103535. 10.1016\/j.ejmg.2018.09.002","journal-title":"Eur J Med Genet"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61797","article-title":"Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients","volume":"182","author":"Bezuidenhout H","year":"2020","unstructured":"Bezuidenhout H, Bayley S, Smit L, Kinnear C, M\u00f6ller M, Uren C, Urban MF. Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients. Am J Med Genet A. 2020, 182:2230-2235. 10.1002\/ajmg.a.61797","journal-title":"Am J Med Genet A"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13033","article-title":"PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation","volume":"93","author":"Abdel-Hamid MS","year":"2018","unstructured":"Abdel-Hamid MS, Issa MY, Otaify GA, Abdel-Ghafar SF, Elbendary HM, Zaki MS. PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation. Clin Genet. 2018, 93:84-91. 10.1111\/cge.13033","journal-title":"Clin Genet"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.37","article-title":"Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden","volume":"18","author":"Abouelhoda M","year":"2016","unstructured":"Abouelhoda M, Sobahy T, El-Kalioby M, et al.. Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. Genet Med. 2016, 18:1244-1249. 10.1038\/gim.2016.37","journal-title":"Genet Med"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1575-0","article-title":"High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders","volume":"134","author":"Yavarna T","year":"2015","unstructured":"Yavarna T, Al-Dewik N, Al-Mureikhi M, et al.. High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Genet. 2015, 134:967-980. 10.1007\/s00439-015-1575-0","journal-title":"Hum Genet"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.146","article-title":"Clinical exome sequencing: results from 2819 samples reflecting 1000 families","volume":"25","author":"Trujillano D","year":"2017","unstructured":"Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, et al.. Clinical exome sequencing: results from 2819 samples reflecting 1000 families. Eur J Hum Genet. 2017, 25:176-182. 10.1038\/ejhg.2016.146","journal-title":"Eur J Hum Genet"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.004","article-title":"Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation","volume":"91","author":"Krawitz PM","year":"2012","unstructured":"Krawitz PM, Murakami Y, Hecht J, et al.. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet. 2012, 91:146-151. 10.1016\/j.ajhg.2012.05.004","journal-title":"Am J Hum Genet"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33438","article-title":"Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome","volume":"152A","author":"Thompson MD","year":"2010","unstructured":"Thompson MD, Nezarati MM, Gillessen-Kaesbach G, et al.. Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome. Am J Med Genet A. 2010, 152A:1661-1669. 10.1002\/ajmg.a.33438","journal-title":"Am J Med Genet A"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.50","article-title":"Expanding the phenome and variome of skeletal dysplasia","volume":"20","author":"Maddirevula S","year":"2018","unstructured":"Maddirevula S, Alsahli S, Alhabeeb L, et al.. Expanding the phenome and variome of skeletal dysplasia. Genet Med. 2018, 20:1609-1616. 10.1038\/gim.2018.50","journal-title":"Genet Med"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/88047-a-novel-pgap3-gene-mutation-related-megalocornea-can-be-misdiagnosed-as-primary-congenital-glaucoma","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T19:39:40Z","timestamp":1707507580000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/88047-a-novel-pgap3-gene-mutation-related-megalocornea-can-be-misdiagnosed-as-primary-congenital-glaucoma"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,21]]},"references-count":17,"URL":"https:\/\/doi.org\/10.7759\/cureus.29387","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2022,9,21]]}}}