{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T23:32:39Z","timestamp":1787614359462,"version":"build-2736575974"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,7,14]],"date-time":"2021-07-14T00:00:00Z","timestamp":1626220800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["project \u201cHCQ4Surfdefect\u201d under E\u2010Rare\u20103"],"award-info":[{"award-number":["project \u201cHCQ4Surfdefect\u201d under E\u2010Rare\u20103"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["418081722"],"award-info":[{"award-number":["418081722"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["433158657"],"award-info":[{"award-number":["433158657"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["Gr 970\/9\u20101"],"award-info":[{"award-number":["Gr 970\/9\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001655","name":"Deutscher Akademischer Austauschdienst","doi-asserted-by":"publisher","award":["German\u2010Arab Transformation Program ID 57166498"],"award-info":[{"award-number":["German\u2010Arab Transformation Program ID 57166498"]}],"id":[{"id":"10.13039\/501100001655","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA, MIM#618278) is a rare clinical condition caused by bi\u2010allelic variants in\n                    <jats:italic>NHL repeat containing protein 2<\/jats:italic>\n                    (\n                    <jats:italic>NHLRC2<\/jats:italic>\n                    , MIM*618277). Pulmonary disease may be the presenting sign and the few patients reported so far, all deceased in early infancy. Exome sequencing was performed on patients with childhood interstitial lung disease (chILD) and additional neurological features. The chILD\u2010EU register database and an in\u2010house database were searched for patients with\n                    <jats:italic>NHLRC2<\/jats:italic>\n                    variants and clinical features overlapping FINCA syndrome. Six patients from three families were identified with bi\u2010allelic variants in\n                    <jats:italic>NHLRC2<\/jats:italic>\n                    . Two of these children died before the age of two while four others survived until childhood. Interstitial lung disease was pronounced in almost all patients during infancy and stabilized over the course of the disease with neurodevelopmental delay (NDD) evolving as the key clinical finding. We expand the phenotype of FINCA syndrome to a multisystem disorder with variable severity. FINCA syndrome should also be considered in patients beyond infancy with NDD and a history of distinct interstitial lung disease. Managing patients in registers for rare diseases helps identifying new diagnostic entities and advancing care for these patients.\n                  <\/jats:p>","DOI":"10.1111\/cge.14016","type":"journal-article","created":{"date-parts":[[2021,6,24]],"date-time":"2021-06-24T05:43:10Z","timestamp":1624513390000},"page":"453-461","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7371-8158","authenticated-orcid":false,"given":"Christina K.","family":"Rapp","sequence":"first","affiliation":[{"name":"Dr. von Haunersches Kinderspital University of Munich, German Center for Lung Research  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ine","family":"Van Dijck","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pulmonology University Hospitals Leuven campus Gasthuisberg  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Laugwitz","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University Hospital of Tuebingen  T\u00fcbingen Germany"},{"name":"Department of Neuropediatrics, Developmental Neurology and Social Pediatrics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mieke","family":"Boon","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pulmonology University Hospitals Leuven campus Gasthuisberg  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Briassoulis","sequence":"additional","affiliation":[{"name":"Pediatric Intensive Care Unit, Medical School University of Crete  Crete Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stavroula","family":"Ilia","sequence":"additional","affiliation":[{"name":"Pediatric Intensive Care Unit, Medical School University of Crete  Crete Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Kammer","sequence":"additional","affiliation":[{"name":"Department of Radiology, Pediatric Radiology University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Reu","sequence":"additional","affiliation":[{"name":"Institute of Pathology University of W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanie","family":"Hornung","sequence":"additional","affiliation":[{"name":"Consulting &amp; Training SH Mgt. Consulting &amp; Training  Siegmund\u2010Schacky\u2010Stra\u00dfe 27 Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Buchert","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University Hospital of Tuebingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Sofan","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University Hospital of Tuebingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2862-0733","authenticated-orcid":false,"given":"Tawfiq","family":"Froukh","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering Philadelphia University  Amman Jordan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Witters","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic disease University Hospitals Leuven campus Gasthuisberg  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisy","family":"Rymen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic disease University Hospitals Leuven campus Gasthuisberg  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[{"name":"Institute of Pathology University of W\u00fcrzburg  W\u00fcrzburg Germany"},{"name":"Centre for Rare Diseases University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marijke","family":"Proesmans","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pulmonology University Hospitals 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