{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T02:10:53Z","timestamp":1758161453510,"version":"3.44.0"},"reference-count":18,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neu\u2013Laxova's syndrome (NLS) is a rare group of congenital malformations comprising intrauterine growth retardation (IUGR), central nervous system malformations, microcephaly, facial anomalies, ichthyosis, generalized edema, limb abnormalities, polyhydramnios, and perinatal death. We hereby report a fetus at 25 weeks' gestation with IUGR, facial and limb anomalies, and smooth brain detected on antenatal ultrasound and magnetic resonance imaging of fetus and confirmed by autopsy. Next-generation sequencing analysis identified a novel homozygous missense mutation in PHGDH gene. Only 35 cases of NLS with genetic etiology have been reported. This is the first case report of mutation in PHGDH from India.<\/jats:p>","DOI":"10.1055\/s-0041-1726038","type":"journal-article","created":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T20:45:51Z","timestamp":1622580351000},"page":"233-236","source":"Crossref","is-referenced-by-count":0,"title":["Neu\u2013Laxova's Syndrome: A Case Report of a Fetus with Novel Mutation in PHGDH Gene and a Literature Review"],"prefix":"10.53391","volume":"12","author":[{"given":"Ravi","family":"Kapoor","sequence":"additional","affiliation":[{"name":"City X-ray & Scan Clinic Pvt. Ltd., Tilak Nagar, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seema","family":"Thakur","sequence":"additional","affiliation":[{"name":"Department of Genetic and Fetal Diagnosis, Fortis Hospital, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aakar","family":"Kapoor","sequence":"additional","affiliation":[{"name":"City X-ray & Scan Clinic Pvt. Ltd., Tilak Nagar, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunita","family":"Kapoor","sequence":"additional","affiliation":[{"name":"City X-ray & Scan Clinic Pvt. Ltd., Tilak Nagar, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Apurva","family":"Kalra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aakriti","family":"Kapoor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2021,6,1]]},"reference":[{"issue":"03","key":"ref1","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":"R L Neu","year":"1971","journal-title":"Pediatrics"},{"issue":"02","key":"ref2","first-page":"139","article-title":"A further example of a lethal autosomal recessive condition in sibs","volume":"16","author":"R Laxova","year":"1972","journal-title":"J Ment Defic Res"},{"issue":"09","key":"ref3","doi-asserted-by":"crossref","first-page":"1615","DOI":"10.1002\/humu.24067","article-title":"Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders","volume":"41","author":"F Abdelfattah","year":"2020","journal-title":"Hum Mutat"},{"issue":"03","key":"ref4","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":"M A Manning","year":"2004","journal-title":"Am J Med Genet A"},{"issue":"03","key":"ref5","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1111\/j.1346-8138.1998.tb02373.x","article-title":"A Japanese case of Neu\u2013Laxova syndrome","volume":"25","author":"T Hirota","year":"1998","journal-title":"J Dermatol"},{"issue":"03","key":"ref6","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/j.ajhg.2014.07.012","article-title":"Neu\u2013Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway","volume":"95","author":"R Acuna-Hidalgo","year":"2014","journal-title":"Am J Hum Genet"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"295","DOI":"10.3109\/15513818609068856","article-title":"Neu-Laxova syndrome: report of two cases","volume":"5","author":"G G Ejeckam","year":"1986","journal-title":"Pediatr Pathol"},{"key":"ref8","first-page":"130A","article-title":"Further delineation of the Neu\u2013Laxova syndrome","volume":"29","author":"C JR Curry","year":"1981","journal-title":"Clin Res"},{"issue":"04","key":"ref9","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1002\/ajmg.1320130415","article-title":"The Neu-Laxova syndrome: comments on syndrome identification","volume":"13","author":"N Fitch","year":"1982","journal-title":"Am J Med Genet"},{"issue":"01","key":"ref10","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":"M H Karimi-Nejad","year":"1987","journal-title":"Am J Med Genet"},{"issue":"01","key":"ref11","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":"R Russo","year":"1989","journal-title":"Am J Med Genet"},{"issue":"01","key":"ref12","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1002\/ajmg.1320350110","article-title":"New manifestations of Neu-Laxova syndrome","volume":"35","author":"M CS Naveed","year":"1990","journal-title":"Am J Med Genet"},{"issue":"01","key":"ref13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1471-2393-2-1","article-title":"Prenatal diagnosis of Neu-Laxova syndrome: a case report","volume":"2","author":"H Aslan","year":"2002","journal-title":"BMC Pregnancy Childbirth"},{"issue":"01","key":"ref14","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1111\/j.1440-1673.1992.tb03075.x","article-title":"Echographic, radiological and anatomo-pathological evaluation of a foetus with Neu-Laxova syndrome","volume":"36","author":"R Monaco","year":"1992","journal-title":"Australas Radiol"},{"issue":"01","key":"ref15","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1002\/pd.485","article-title":"Second trimester diagnosis of Neu Laxova syndrome","volume":"23","author":"M A Shivarajan","year":"2003","journal-title":"Prenat Diagn"},{"issue":"06","key":"ref16","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":"R Shaheen","year":"2014","journal-title":"Am J Hum Genet"},{"issue":"03","key":"ref17","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":"R Acuna-Hidalgo","year":"2014","journal-title":"Am J Hum Genet"},{"issue":"03","key":"ref18","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ymgme.2016.04.010","article-title":"Serine biosynthesis and transport defects","volume":"118","author":"A W El-Hattab","year":"2016","journal-title":"Mol Genet Metab"}],"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0041-1726038.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:46:02Z","timestamp":1758138362000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0041-1726038"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,1]]},"references-count":18,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2023,8,11]]},"published-print":{"date-parts":[[2023,9]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0041-1726038","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"type":"print","value":"2146-4596"},{"type":"electronic","value":"2146-460X"}],"subject":[],"published":{"date-parts":[[2021,6,1]]}}}