{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T11:55:15Z","timestamp":1782561315881,"version":"3.54.5"},"reference-count":25,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.fr","em-consulte.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Archives de P\u00e9diatrie"],"published-print":{"date-parts":[[2015,9]]},"DOI":"10.1016\/j.arcped.2015.06.003","type":"journal-article","created":{"date-parts":[[2015,7,29]],"date-time":"2015-07-29T20:42:21Z","timestamp":1438202541000},"page":"951-955","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Sanjad-Sakati syndrome in a Tunisian child"],"prefix":"10.1016","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0326-926X","authenticated-orcid":false,"given":"E.","family":"Kerkeni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Sakka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Sfar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Bouaziz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Ghedira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. Ben","family":"Ameur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. Ben","family":"Hmida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.-Z.","family":"Chioukh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.S.","family":"Gh\u00e9dira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Gribaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Monastiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.arcped.2015.06.003_bib0130","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1136\/adc.66.2.193","article-title":"A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features","volume":"66","author":"Sanjad","year":"1991","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.arcped.2015.06.003_bib0135","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/j.jaapos.2006.10.015","article-title":"Ophthalmic features of hypoparathyroidism retardation-dysmorphism","volume":"11","author":"Khan","year":"2007","journal-title":"J AAPOS"},{"key":"10.1016\/j.arcped.2015.06.003_bib0140","doi-asserted-by":"crossref","first-page":"2686","DOI":"10.1210\/jc.2008-2788","article-title":"Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum","volume":"94","author":"Padidela","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.arcped.2015.06.003_bib0145","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1017\/S0317167100015705","article-title":"Partial agenesis of corpus callosum in Sanjad-Sakati syndrome (p-ACC)","volume":"39","author":"Al Ghasab","year":"2012","journal-title":"Can J Neurol Sci"},{"key":"10.1016\/j.arcped.2015.06.003_bib0150","doi-asserted-by":"crossref","first-page":"393","DOI":"10.2147\/IJGM.S40930","article-title":"Neurological manifestations in children with Sanjad-Sakati syndrome","volume":"27","author":"Elhassanien","year":"2013","journal-title":"Int J Gen Med"},{"key":"10.1016\/j.arcped.2015.06.003_bib0155","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1111\/j.1399-0004.1992.tb03220.x","article-title":"Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features\u00a0\u2013\u00a0another case of this new syndrome","volume":"42","author":"Kalam","year":"1992","journal-title":"Clin Genet"},{"key":"10.1016\/j.arcped.2015.06.003_bib0160","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1136\/jmg.37.1.63","article-title":"Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome 1q42-43","volume":"37","author":"Kelly","year":"2000","journal-title":"J Med Gen"},{"key":"10.1016\/j.arcped.2015.06.003_bib0165","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1038\/ng1012","article-title":"Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome","volume":"32","author":"Parvari","year":"2002","journal-title":"Nat Genet"},{"key":"10.1016\/j.arcped.2015.06.003_bib0170","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1016\/j.yexcr.2006.09.002","article-title":"Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation","volume":"313","author":"Kortazar","year":"2007","journal-title":"Exp Cell Res"},{"key":"10.1016\/j.arcped.2015.06.003_bib0175","doi-asserted-by":"crossref","first-page":"345","DOI":"10.26719\/2009.15.2.345","article-title":"Sanjad-Sakati syndrome\/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait","volume":"15","author":"Naguib","year":"2009","journal-title":"East Mediterr Health J"},{"key":"10.1016\/j.arcped.2015.06.003_bib0180","doi-asserted-by":"crossref","first-page":"527","DOI":"10.26719\/2012.18.5.527","article-title":"Sanjad Sakati syndrome: a case series from Jordan","volume":"18","author":"Albaramki","year":"2012","journal-title":"East Mediterr Health J"},{"key":"10.1016\/j.arcped.2015.06.003_bib0185","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2013\/184084","article-title":"Sanjad-Sakati syndrome dental management: a case report","volume":"2013","author":"El Batawi","year":"2013","journal-title":"Case Rep Dent"},{"key":"10.1016\/j.arcped.2015.06.003_bib0190","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1002\/ajmg.a.30666","article-title":"Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome in triplets","volume":"135A","author":"Al Tawil","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.arcped.2015.06.003_bib0195","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1097\/00019605-199707000-00006","article-title":"The syndrome of hypoparathyroidism, severe growth failure, developmental delay and distinctive facies","volume":"6","author":"Al-Gazali","year":"1997","journal-title":"Clin Dysmorphol"},{"key":"10.1016\/j.arcped.2015.06.003_bib0200","first-page":"227","article-title":"Sanjad-Sakati syndrome in Omani children","volume":"25","author":"Rafique","year":"2010","journal-title":"Oman Med J"},{"key":"10.1016\/j.arcped.2015.06.003_bib0205","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1002\/ajmg.a.31122","article-title":"Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: a new variant not caused by a TBCE mutation\u00a0\u2013\u00a0clinical report and review","volume":"140A","author":"Courtens","year":"2006","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.arcped.2015.06.003_bib0210","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1136\/adc.65.10.1113","article-title":"Short stature, mental retardation, and hypoparathyroidism: a new syndrome","volume":"65","author":"Richardson","year":"1990","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.arcped.2015.06.003_bib0215","first-page":"43","article-title":"Sanjad-Sakati syndrome in Sudanese children","volume":"11","author":"Arabi","year":"2011","journal-title":"Sudan J Paediatr"},{"key":"10.1016\/j.arcped.2015.06.003_bib0220","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1086\/301915","article-title":"Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cm interval on chromosome 1q42-43","volume":"63","author":"Parvari","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.arcped.2015.06.003_bib0225","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1002\/(SICI)1096-8628(19990702)85:1<48::AID-AJMG9>3.0.CO;2-Y","article-title":"Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement","volume":"85","author":"Diaz","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.arcped.2015.06.003_bib0230","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1006\/geno.1998.5530","article-title":"The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43","volume":"54","author":"Diaz","year":"1998","journal-title":"Genomics"},{"key":"10.1016\/j.arcped.2015.06.003_bib0235","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1136\/jmg.35.1.31","article-title":"Kenny-Caffey syndrome is part of the CATCH 22 haplo insufficiency cluster","volume":"35","author":"Sabry","year":"1998","journal-title":"J Med Genet"},{"key":"10.1016\/j.arcped.2015.06.003_bib0240","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1007\/s13312-010-0066-6","article-title":"Sanjad-Sakati syndrome in a neonate","volume":"47","author":"Pal","year":"2010","journal-title":"Indian Pediatr"},{"key":"10.1016\/j.arcped.2015.06.003_bib0245","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1159\/000095944","article-title":"Parathyroid development and the role of tubulin chaperone E","volume":"67","author":"Parvari","year":"2007","journal-title":"Horm Res"},{"key":"10.1016\/j.arcped.2015.06.003_bib0250","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1186\/1750-1172-7-52","article-title":"Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East","volume":"7","author":"Romdhane","year":"2012","journal-title":"Orphanet J Rare Dis"}],"container-title":["Archives de P\u00e9diatrie"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0929693X1500233X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0929693X1500233X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,8,28]],"date-time":"2019-08-28T17:51:44Z","timestamp":1567014704000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0929693X1500233X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9]]},"references-count":25,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["S0929693X1500233X"],"URL":"https:\/\/doi.org\/10.1016\/j.arcped.2015.06.003","relation":{},"ISSN":["0929-693X"],"issn-type":[{"value":"0929-693X","type":"print"}],"subject":[],"published":{"date-parts":[[2015,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Sanjad-Sakati syndrome in a Tunisian child","name":"articletitle","label":"Article Title"},{"value":"Archives de P\u00e9diatrie","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.arcped.2015.06.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}