{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T03:11:10Z","timestamp":1783653070592,"version":"3.55.0"},"reference-count":38,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T00:00:00Z","timestamp":1773360000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T00:00:00Z","timestamp":1773360000000},"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":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    The rare X\u2010linked female\u2010restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired. HDKR is caused by heterozygous frameshift, splice or nonsense variants in the\n                    <jats:italic>MED12<\/jats:italic>\n                    gene. Besides HDKR,\n                    <jats:italic>MED12<\/jats:italic>\n                    pathogenic variants cause a broad spectrum of developmental disorders, collectively referred to as\n                    <jats:italic>MED12<\/jats:italic>\n                    \u2010related disorders, including Opitz\u2010Kaveggia syndrome or FG syndrome type 1 (OKS, OMIM #305450), Lujan\u2010Fryns syndrome (MRXSLF, OMIM #309520), X\u2010linked Ohdo syndrome (OHDOX, OMIM #300895) and isolated intellectual disability. Here we report four individuals with HDKR, including the first of maternally inherited HDKR, and we review molecular and clinical data from 33 individuals with HDKR and 215 individuals with other\n                    <jats:italic>MED12<\/jats:italic>\n                    \u2010related disorders retrieved through a literature and public database search. We highlight sella turcica cysts as a new Hardikar syndrome\u2010related feature, and we introduce clinical guidelines for the diagnosis and management of individuals with HDKR.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70122","type":"journal-article","created":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T07:37:58Z","timestamp":1773387478000},"page":"1619-1650","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other\n                    <scp>\n                      <i>MED12<\/i>\n                    <\/scp>\n                    \u2010Related Developmental Disorders"],"prefix":"10.1002","volume":"200","author":[{"given":"Tinne","family":"Warmoeskerken","sequence":"first","affiliation":[{"name":"Steps Skills Center Catholic University Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miel","family":"Theunis","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kris","family":"Van den Bogaert","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koenraad","family":"Devriendt","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0734-5154","authenticated-orcid":false,"given":"Jeroen","family":"Breckpot","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,13]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICB.0000000000001476"},{"issue":"12","key":"e_1_2_11_3_1","first-page":"745","article-title":"Rathke's Cleft and Its Cysts","volume":"55","author":"Bayoumi M. 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