{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T12:23:54Z","timestamp":1773923034404,"version":"3.50.1"},"reference-count":40,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2016,8,1]],"date-time":"2016-08-01T00:00:00Z","timestamp":1470009600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,8,1]],"date-time":"2016-08-01T00:00:00Z","timestamp":1470009600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Annales de Pathologie"],"published-print":{"date-parts":[[2016,8]]},"DOI":"10.1016\/j.annpat.2016.04.004","type":"journal-article","created":{"date-parts":[[2016,7,29]],"date-time":"2016-07-29T01:21:00Z","timestamp":1469755260000},"page":"235-244","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Syndrome de Neu-Laxova\u00a0: rapport de trois cas et revue de la litt\u00e9rature"],"prefix":"10.1016","volume":"36","author":[{"given":"Sihem","family":"Darouich","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Boujelbene","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehdi","family":"Kehila","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed Badis","family":"Chanoufi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9di","family":"Reziga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soumeya","family":"Gaigi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aida","family":"Masmoudi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.annpat.2016.04.004_bib0005","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1542\/peds.47.3.610","article-title":"A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings","volume":"47","author":"Neu","year":"1971","journal-title":"Pediatrics"},{"key":"10.1016\/j.annpat.2016.04.004_bib0010","first-page":"139","article-title":"A further example of a lethal autosomal recessive condition in sibs","volume":"16","author":"Laxova","year":"1972","journal-title":"J Ment Defic Res"},{"key":"10.1016\/j.annpat.2016.04.004_bib0015","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/ajmg.1320030304","article-title":"Brief clinical observations: the Neu-Laxova syndrome-a distinct entity","volume":"3","author":"Lazjuk","year":"1979","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0020","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1002\/ajmg.1320270118","article-title":"The Neu-Laxova syndrome in female sibs: clinical and pathological features with prenatal diagnosis in the second sib","volume":"27","author":"Tolmie","year":"1987","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0025","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1002\/ajmg.a.20467","article-title":"Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review","volume":"125A","author":"Manning","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0030","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1002\/ajmg.1320260221","article-title":"A case of the Neu-Laxova syndrome: prenatal ultrasonographic monitoring in the third trimester and the histopathological findings","volume":"26","author":"Muller","year":"1987","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0035","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1002\/ajmg.1320350110","article-title":"New manifestations of Neu-Laxova syndrome","volume":"35","author":"Naveed","year":"1990","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0040","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1002\/ajmg.1320090211","article-title":"Neu-Laxova syndrome and CAD complex","volume":"9","author":"Scott","year":"1981","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0045","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1136\/jmg.18.2.129","article-title":"Syndromes of microcephaly, microphthalmia, cataracts and joint contractures","volume":"18","author":"Winter","year":"1981","journal-title":"J Med Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0050","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1002\/ajmg.1320160424","article-title":"Neu-Laxova syndrome: two further case reports and comments on proposed subclassification","volume":"16","author":"Mueller","year":"1983","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0055","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1136\/jmg.20.3.227","article-title":"Additional manifestation of the Neu-Laxova syndrome","volume":"20","author":"Turkel","year":"1983","journal-title":"J Med Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0060","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.1320200102","article-title":"Elaboration of the phenotypic changes of the upper limbs in the Neu-Laxova syndrome","volume":"20","author":"Shved","year":"1985","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0065","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1002\/ajmg.1320280104","article-title":"Neu-Laxova syndrome: report of a case and comments","volume":"28","author":"Karimi-Nejad","year":"1987","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0070","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1002\/ajmg.1320300308","article-title":"Cerebral abnormalities in the Neu-Laxova syndrome","volume":"30","author":"Ostrovskaya","year":"1988","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0075","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1002\/ajmg.1320320129","article-title":"Neu-Laxova syndrome: pathological, radiological and prenatal findings in a stillborn female","volume":"32","author":"Russo","year":"1989","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0080","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1002\/ajmg.1320410109","article-title":"Neu-Laxova syndrome in two Egyptian families","volume":"41","author":"Meguid","year":"1991","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0085","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1002\/ajmg.1320430319","article-title":"Neu-Laxova syndrome: prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations","volume":"43","author":"Shapiro","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0090","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1002\/ajmg.1320560225","article-title":"New manifestations in an infant with Neu Laxova syndrome","volume":"56","author":"Rouzbahani","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0095","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1046\/j.1525-1470.2003.03005.x","article-title":"Neu-Laxova syndrome: a case report","volume":"20","author":"Hickey","year":"2003","journal-title":"Pediatr Dermatol"},{"key":"10.1016\/j.annpat.2016.04.004_bib0100","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1159\/000083898","article-title":"Evaluation of a fetus with Neu-Laxova syndrome through prenatal, clinical and pathological findings","volume":"20","author":"Mihci","year":"2005","journal-title":"Fetal Diagn Ther"},{"key":"10.1016\/j.annpat.2016.04.004_bib0105","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1111\/j.1468-3083.2006.01645.x","article-title":"Neu-Laxova syndrome: a case report and review of the literature","volume":"20","author":"Ugras","year":"2006","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"10.1016\/j.annpat.2016.04.004_bib0110","doi-asserted-by":"crossref","first-page":"225","DOI":"10.5152\/jtgga.2010.44","article-title":"Prenatal diagnosis and postmortem findings of Neu-laxova syndrome","volume":"11","author":"Tarim","year":"2010","journal-title":"J Turk Ger Gynecol Assoc"},{"key":"10.1016\/j.annpat.2016.04.004_bib0115","doi-asserted-by":"crossref","first-page":"3193","DOI":"10.1002\/ajmg.a.33737","article-title":"Neu-Laxova syndrome: a new patient with detailed antenatal and post-natal findings","volume":"152A","author":"Manar","year":"2010","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0120","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3109\/15513815.2011.618864","article-title":"Rare manifestations of Neu-Laxova syndrome","volume":"31","author":"Badakali","year":"2012","journal-title":"Fetal Pediatr Pathol"},{"key":"10.1016\/j.annpat.2016.04.004_bib0125","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1046\/j.1525-1470.2003.03017.x","article-title":"What syndrome is this? Neu-Laxova syndrome","volume":"20","author":"Carder","year":"2003","journal-title":"Pediatr Dermatol"},{"key":"10.1016\/j.annpat.2016.04.004_bib0130","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1097\/00019605-199710000-00004","article-title":"Extreme microcephaly, severe growth and mental retardation, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome?","volume":"6","author":"Horn","year":"1997","journal-title":"Clin Dysmorphol"},{"key":"10.1016\/j.annpat.2016.04.004_bib0135","doi-asserted-by":"crossref","first-page":"483","DOI":"10.5021\/ad.2013.25.4.483","article-title":"A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?","volume":"25","author":"Ozcan","year":"2013","journal-title":"Ann Dermatol"},{"key":"10.1016\/j.annpat.2016.04.004_bib0140","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1016\/j.ajhg.2014.04.015","article-title":"Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH","volume":"94","author":"Shaheen","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0145","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/j.ajhg.2014.07.012","article-title":"Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway","volume":"95","author":"Acuna-Hidalgo","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0150","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.1002\/ajmg.a.36930","article-title":"Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability","volume":"167","author":"Mattos","year":"2015","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.annpat.2016.04.004_bib0155","first-page":"21","article-title":"Craniofacial and visceral defects with congenital contractures: a variant of the Neu-Laxova syndrome","volume":"31","author":"Paes","year":"1985","journal-title":"J Clin Dysmorphol"},{"key":"10.1016\/j.annpat.2016.04.004_bib0160","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1002\/pd.101","article-title":"Early ultrasound diagnosis of Neu\u2013Laxova syndrome","volume":"21","author":"Rode","year":"2001","journal-title":"Prenat Diag"},{"key":"10.1016\/j.annpat.2016.04.004_bib0165","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/pd.228","article-title":"Early second trimester prenatal diagnosis of Neu-Laxova syndrome","volume":"22","author":"Driggers","year":"2002","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.annpat.2016.04.004_bib0170","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1007\/s00404-007-0349-x","article-title":"Neu-Laxova syndrome, grossly appearing normal on 20 weeks ultrasonographic scan, that manifested late in pregnancy: a case report","volume":"276","author":"Kahyaoglu","year":"2007","journal-title":"Arch Gynecol Obstet"},{"key":"10.1016\/j.annpat.2016.04.004_bib0175","doi-asserted-by":"crossref","first-page":"487","DOI":"10.4103\/0378-6323.44307","article-title":"Neu-Laxova syndrome in an appropriate for gestational age newborn","volume":"74","author":"Dilli","year":"2008","journal-title":"Indian J Dermatol Venereol Leprol"},{"key":"10.1016\/j.annpat.2016.04.004_bib0180","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1111\/j.1346-8138.1998.tb02373.x","article-title":"A Japanese case of Neu-Laxova syndrome","volume":"25","author":"Hirota","year":"1998","journal-title":"J Dermatol"},{"key":"10.1016\/j.annpat.2016.04.004_bib0185","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1007\/s10545-013-9592-4","article-title":"An update on serine deficiency disorders","volume":"36","author":"Van der Crabben","year":"2013","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.annpat.2016.04.004_bib0190","doi-asserted-by":"crossref","first-page":"3573","DOI":"10.1074\/jbc.C300507200","article-title":"Targeted disruption of the mouse 3-phosphoglycerate dehydrogenase gene causes severe neurodevelopmental defects and results in embryonic lethality","volume":"30","author":"Yoshida","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1016\/j.annpat.2016.04.004_bib0195","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1111\/febs.12146","article-title":"L-serine deficiency caused by genetic PHGDH deletion leads to robust induction of 4EBP1 and subsequent repression of translation initiation in the developing central nervous system","volume":"280","author":"Sayano","year":"2013","journal-title":"FEBS J"},{"key":"10.1016\/j.annpat.2016.04.004_bib0200","doi-asserted-by":"crossref","first-page":"7691","DOI":"10.1523\/JNEUROSCI.21-19-07691.2001","article-title":"3-Phosphoglycerate dehydrogenase, a key enzyme for l-serine biosynthesis, is preferentially expressed in the radial glia\/astrocyte lineage and olfactory ensheathing glia in the mouse brain","volume":"21","author":"Yamasaki","year":"2001","journal-title":"J Neurosci"}],"container-title":["Annales de Pathologie"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0242649816300311?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0242649816300311?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:33:14Z","timestamp":1759332794000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0242649816300311"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8]]},"references-count":40,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,8]]}},"alternative-id":["S0242649816300311"],"URL":"https:\/\/doi.org\/10.1016\/j.annpat.2016.04.004","relation":{},"ISSN":["0242-6498"],"issn-type":[{"value":"0242-6498","type":"print"}],"subject":[],"published":{"date-parts":[[2016,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Syndrome de Neu-Laxova\u00a0: rapport de trois cas et revue de la litt\u00e9rature","name":"articletitle","label":"Article Title"},{"value":"Annales de Pathologie","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.annpat.2016.04.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}