{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T09:05:09Z","timestamp":1780563909116,"version":"3.54.1"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,11,3]],"date-time":"2019-11-03T00:00:00Z","timestamp":1572739200000},"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":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Aym\u00e9\u2010Gripp syndrome (AYGRPS) is a recognizable condition caused by a restricted spectrum of dominantly acting missense mutations affecting the transcription factor <jats:italic>MAF<\/jats:italic>. Major clinical features of AYGRPS include congenital cataracts, sensorineural hearing loss, intellectual disability, and a distinctive flat facial appearance. Skeletal abnormalities have also been observed in affected individuals, even though these features have not been assessed systematically. Expanding the series with four additional patients, here we provide a more accurate delineation of the molecular aspects and clinical phenotype, particularly focusing on the skeletal features characterizing this disorder. Apart from previously reported malar flattening and joint limitations, we document that carpal\/tarsal and long bone defects, and hip dysplasia occur in affected subjects more frequently than formerly appreciated.<\/jats:p>","DOI":"10.1111\/cge.13651","type":"journal-article","created":{"date-parts":[[2019,10,10]],"date-time":"2019-10-10T23:28:06Z","timestamp":1570750086000},"page":"362-369","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Skeletal abnormalities are common features in Aym\u00e9\u2010Gripp syndrome"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4766-7753","authenticated-orcid":false,"given":"Marcello","family":"Niceta","sequence":"first","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Barbuti","sequence":"additional","affiliation":[{"name":"Radiologia e Bioimaging Ospedale Pediatrico Bambino Ges\u00f9  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7108-1974","authenticated-orcid":false,"given":"Neerja","family":"Gupta","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics All Institute of Medical Sciences  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Ruggiero","sequence":"additional","affiliation":[{"name":"Centro de Estudios Geneticos  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7116-6310","authenticated-orcid":false,"given":"Eduardo F.","family":"Tizzano","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics and Rare Diseases Unit University Hospital Valld'Hebron, Medicine Genetics Group, VHIR  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luitgard","family":"Graul\u2010Neumann","sequence":"additional","affiliation":[{"name":"Ambulantes Gesundheitszentrum Humangenetik Charit\u00e9 Universit\u00e4ts medizin Berlin  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7307-388X","authenticated-orcid":false,"given":"Sabina","family":"Barresi","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Center for Intractable Diseases Saitama Medical University Hospital  Iruma Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2350-6058","authenticated-orcid":false,"given":"Irene","family":"Valenzuela","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics and Rare Diseases Unit University Hospital Valld'Hebron, Medicine Genetics Group, VHIR  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fermina","family":"L\u00f3pez\u2010Grondona","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics and Rare Diseases Unit University Hospital Valld'Hebron, Medicine Genetics Group, VHIR  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Fernandez\u2010Alvarez","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics and Rare Diseases Unit University Hospital Valld'Hebron, Medicine Genetics Group, VHIR  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4089-637X","authenticated-orcid":false,"given":"Chiara","family":"Leoni","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Pubblic Health Fondazione\u2010Policlinico\u2010Universitario\u2010A. 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