{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T17:13:07Z","timestamp":1772989987363,"version":"3.50.1"},"reference-count":28,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,7,28]],"date-time":"2020-07-28T00:00:00Z","timestamp":1595894400000},"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":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Nucleotide excision repair associated diseases comprise overlapping phenotypes and a wide range of outcomes. The early stages still remain under\u2010investigated and underdiagnosed, even although an early recognition of the first symptoms is of utmost importance for appropriate care and genetic counseling. We systematically collected clinical and molecular data from the literature and from newly diagnosed NER patients with neurological impairment, presenting clinical symptoms before the age of 12 months, including foetal cases. One hundred and eighty\u2010five patients were included, 13 with specific symptoms during foetal life. Arthrogryposis, microcephaly, cataracts, and skin anomalies are the most frequently reported signs in early subtypes. Non\n                    <jats:italic>ERCC6\/CSB<\/jats:italic>\n                    or\n                    <jats:italic>ERCC8\/CSA<\/jats:italic>\n                    genes are overrepresented compared to later onset cohorts: 19% patients of this cohort presented variants in\n                    <jats:italic>ERCC1<\/jats:italic>\n                    ,\n                    <jats:italic>ERCC2\/XPD<\/jats:italic>\n                    ,\n                    <jats:italic>ERCC3\/XPB<\/jats:italic>\n                    or\n                    <jats:italic>ERCC5\/XPG. ERCC5\/XPG<\/jats:italic>\n                    is even the most frequently involved gene in foetal cases (10\/13 cases, [4\/7 families]). In this cohort, the mutated gene, the age of onset, the type of disease, severe global developmental delay, IUGR and skin anomalies were associated with earlier death. This large survey focuses on specific symptoms that should attract the attention of clinicians towards early\u2010onset NER diagnosis in foetal and neonatal period, without waiting for the completeness of classical criteria.\n                  <\/jats:p>","DOI":"10.1111\/cge.13798","type":"journal-article","created":{"date-parts":[[2020,6,18]],"date-time":"2020-06-18T01:25:28Z","timestamp":1592443528000},"page":"251-260","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Early\u2010onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling"],"prefix":"10.1111","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4951-2552","authenticated-orcid":false,"given":"Sarah","family":"Baer","sequence":"first","affiliation":[{"name":"Service de P\u00e9diatrie 1, H\u00f4pital de Hautepierre H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"},{"name":"Laboratoires de Diagnostic G\u00e9n\u00e9tique Institut de g\u00e9n\u00e9tique m\u00e9dicale d'Alsace, Nouvel H\u00f4pital Civil, H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cathy","family":"Obringer","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique m\u00e9dicale, Institut de g\u00e9n\u00e9tique m\u00e9dicale d'Alsace, Facult\u00e9 de M\u00e9decine de Strasbourg H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Julia","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU de Toulouse \u2010 H\u00f4pital Purpan  Toulouse France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jameleddine","family":"Chelly","sequence":"additional","affiliation":[{"name":"Laboratoires de Diagnostic G\u00e9n\u00e9tique Institut de g\u00e9n\u00e9tique m\u00e9dicale d'Alsace, Nouvel H\u00f4pital Civil, H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yline","family":"Capri","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale AP\u2010HP Robert\u2010Debr\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Domitille","family":"Gras","sequence":"additional","affiliation":[{"name":"Service de Neurologie P\u00e9diatrique, AP\u2010HP Robert\u2010Debr\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Genevi\u00e8ve","family":"Baujat","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Maladies Osseuses Constitutionnelles, D\u00e9partement de G\u00e9n\u00e9tique H\u00f4pital Necker\u2010Enfants Malades, Institut Imagine  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T\u00eamis Maria","family":"Felix","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Hospital de Clinicas de Porto Alegre  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berenice","family":"Doray","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, Centre Hospitalier Universitaire F\u00e9lix Guyon  Bellepierre France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaime","family":"Sanchez del Pozo","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Dysmorphology Unit Hospital Universitario  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina M.","family":"Ramos","sequence":"additional","affiliation":[{"name":"Pediatric Hospital of Coimbra  Coimbra Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lydie","family":"Burglen","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des malformations et maladies cong\u00e9nitales du cervelet, D\u00e9partement de g\u00e9n\u00e9tique et embryologie m\u00e9dicale APHP, GHUEP, H\u00f4pital Trousseau  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Laugel","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie 1, H\u00f4pital de Hautepierre H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"},{"name":"Laboratoire de G\u00e9n\u00e9tique m\u00e9dicale, Institut de g\u00e9n\u00e9tique m\u00e9dicale d'Alsace, Facult\u00e9 de M\u00e9decine de Strasbourg H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nad\u00e8ge","family":"Calmels","sequence":"additional","affiliation":[{"name":"Laboratoires de Diagnostic G\u00e9n\u00e9tique Institut de g\u00e9n\u00e9tique m\u00e9dicale d'Alsace, Nouvel H\u00f4pital Civil, H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"},{"name":"Laboratoire de G\u00e9n\u00e9tique m\u00e9dicale, Institut de g\u00e9n\u00e9tique m\u00e9dicale d'Alsace, Facult\u00e9 de M\u00e9decine de Strasbourg H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,7,28]]},"reference":[{"key":"e_1_2_8_2_1","article-title":"Heterogeneity and overlaps in nucleotide excision repair (NER) disorders","author":"Ferri D","year":"2019","journal-title":"Clin 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