{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T09:47:17Z","timestamp":1789984037367,"version":"4.0.1"},"reference-count":7,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T00:00:00Z","timestamp":1718064000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Variants in more than 60 different genes, most of which code for podocyte\u2010related proteins, have been found to be associated with monogenic forms of nephrotic syndrome (NS). Biallelic variants in\n                    <jats:italic>DAAM2<\/jats:italic>\n                    , a member of the formin family, were recently identified to cause autosomal recessive (AR) NS type 24 in four unrelated families with steroid\u2010resistant nephrotic syndrome (SRNS). This case report represents only the fifth reported family of\n                    <jats:italic>DAAM2<\/jats:italic>\n                    \u2010associated NS and the first from India, with two sibs who presented with a complex phenotype characterized by steroid\u2010resistant nephrotic syndrome, short stature, dysmorphic facial features, deep\u2010set toenails, myopia, increased thickness of the calvarium of the skull, and sloping ribs. Both sibs were found to have a homozygous likely pathogenic nonsense variant c.196C&gt;T (p.Arg66Ter; NM_001201427.2) in exon 3 of the\n                    <jats:italic>DAAM2<\/jats:italic>\n                    gene through whole exome sequencing. The dysmorphic features could possibly be part of the\n                    <jats:italic>DAAM2<\/jats:italic>\n                    \u2010related phenotype which has hitherto not been reported or could represent a blended phenotype, with the extrarenal manifestations resulting from a yet to be identified coexisting genetic condition.\n                  <\/jats:p>","DOI":"10.1111\/cge.14565","type":"journal-article","created":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T05:17:02Z","timestamp":1718083022000},"page":"494-499","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Short stature and dysmorphic features in Asian Indian siblings with\n                    <scp>\n                      <i>DAAM2<\/i>\n                    <\/scp>\n                    \u2010associated steroid\u2010resistant nephrotic syndrome: Expansion of the phenotypic spectrum or a blended phenotype?"],"prefix":"10.1111","volume":"106","author":[{"given":"T.","family":"Pragna Lakshmi","sequence":"first","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics  Hyderabad Telangana India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neelam","family":"Saini","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Nizam's Institute of Medical Sciences  Hyderabad Telangana India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehul A.","family":"Shah","sequence":"additional","affiliation":[{"name":"Little Stars Children's Hospital  Hyderabad Telangana India"},{"name":"Apollo Hospitals  Hyderabad Telangana India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swarnalata","family":"Gowrishankar","sequence":"additional","affiliation":[{"name":"Apollo Hospitals  Hyderabad Telangana India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5929-745X","authenticated-orcid":false,"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics  Hyderabad Telangana India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7122-3197","authenticated-orcid":false,"given":"Prajnya","family":"Ranganath","sequence":"additional","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics  Hyderabad Telangana India"},{"name":"Department of Medical Genetics Nizam's Institute of Medical Sciences  Hyderabad Telangana India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,6,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/apa.12317"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.11.008"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-021-03819-2"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0302-x"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.21037\/atm.2019.06.14"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2019.04.005"}],"container-title":["Clinical 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