{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T02:29:06Z","timestamp":1789784946746,"version":"4.0.1"},"reference-count":11,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,12,10]],"date-time":"2018-12-10T00:00:00Z","timestamp":1544400000000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology , Ministry of Science and Technology","doi-asserted-by":"publisher","award":["BT\/PR9635\/MED\/97\/198\/2013"],"award-info":[{"award-number":["BT\/PR9635\/MED\/97\/198\/2013"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:p>Malan syndrome and Marshall\u2013Smith syndrome (MSS) are allelic disorders caused by mutation in <jats:italic>NFIX<\/jats:italic> gene. We report a 3\u2010year\u2010 6 months\u2010 old female with clinical features suggestive of Malan syndrome with mutation in exon 2 of <jats:italic>NFIX<\/jats:italic> gene. <jats:italic>NFIX<\/jats:italic> gene, where most of the mutations in Malan syndrome are located. She did not have advanced bone age. The radiographs of long bones showed metaphyseal changes which were not reported previously. This study reports the first mutation proven case from India and highlights the overlap between MSS and Malan syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.40663","type":"journal-article","created":{"date-parts":[[2018,12,10]],"date-time":"2018-12-10T08:40:46Z","timestamp":1544431246000},"page":"2896-2900","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Malan syndrome: Extension of genotype and phenotype spectrum"],"prefix":"10.1002","volume":"176","author":[{"given":"Archana","family":"Rai","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences  Lucknow Uttar Pradesh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1627-3252","authenticated-orcid":false,"given":"Dhanya Lakshmi","family":"Narayanan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences  Lucknow Uttar Pradesh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6624-082X","authenticated-orcid":false,"given":"Shubha R.","family":"Phadke","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences  Lucknow Uttar Pradesh India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,12,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30580"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.04.012"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.162"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.07.001"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80269-X"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2015.135"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.08.040"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22603"},{"key":"e_1_2_6_11_1","first-page":"1098","article-title":"Marshall\u2010Smith syndrome: A distinct entity","volume":"31","author":"Sharma A. 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