{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T08:02:39Z","timestamp":1779782559959,"version":"3.53.1"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T00:00:00Z","timestamp":1769558400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T00:00:00Z","timestamp":1769558400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Biallelic variants in the\n                    <jats:italic>STAMBP<\/jats:italic>\n                    gene are known to cause Microcephaly\u2010capillary malformation syndrome (MICCAP syndrome). Here we report an 18\u2010month\u2010old female with a novel splice site variant, c.376\u20101G&gt;A in intron\u20104, with the phenotype of a patient who presented to us with fetal onset growth retardation, developmental delay, drug\u2010resistant seizures, multiple capillary malformations, dysmorphism, tone abnormalities, and distal skeletal and nail abnormalities. Functional studies by RNA analysis and quantitative polymerase chain reaction (qPCR) showed that the variant leads to loss of function. The clinical features noted in this child strongly overlapped with the phenotypes reported in the literature, except for absent dentition and retinal dystrophy\u2010like findings on fundus examination. A total of 22 cases have been reported in the literature. We present a detailed description of an Indian child, expanding the clinical and molecular spectrum of\n                    <jats:italic>STAMBP\u2010<\/jats:italic>\n                    related disease.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70067","type":"journal-article","created":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T09:51:45Z","timestamp":1769593905000},"page":"1418-1422","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the Phenotype of\n                    <i>STAMBP<\/i>\n                    \u2010Related Microcephaly\u2010Capillary Malformation Syndrome"],"prefix":"10.1002","volume":"200","author":[{"given":"Vykuntaraju K.","family":"Gowda","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology Indira Gandhi Institute of Child Health  Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amaresh","family":"Roy","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Indira Gandhi Institute of Child Health  Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Disha","sequence":"additional","affiliation":[{"name":"BRIC\u2010Centre for DNA Fingerprinting and Diagnostics  Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0860-5592","authenticated-orcid":false,"given":"Periyasamy","family":"Govindaraj","sequence":"additional","affiliation":[{"name":"BRIC\u2010Centre for DNA Fingerprinting and Diagnostics  Hyderabad India"},{"name":"Department of Neuropathology National Institute of Mental Health and Neurosciences (NIMHANS)  Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Varunvenkat M.","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Postgraduate Institute of Child Health  Noida India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,28]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2021.1411"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33841"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36782"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038\u2010018\u20100482\u20103"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2022.963813"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1128\/mcb.21.24.8626\u20108637.2001"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2602"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34118"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37845"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2014.07.006"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.17116\/jnevro2020120081110"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63899"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heliyon.2023.e22989"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2019.10757"}],"container-title":["American 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