{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T06:05:50Z","timestamp":1760853950533,"version":"3.37.3"},"reference-count":16,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,9,21]],"date-time":"2017-09-21T00:00:00Z","timestamp":1505952000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. RIPK4 was previously known to be implicated in Bartsocas\u2010Papas syndrome, the autosomal recessive form of popliteal pterygium syndrome. We report here two cases of RIPK4 homozygous mutations in a fetus with severe Bartsocas\u2010Papas syndrome and a patient with CHAND syndrome. The patient with CHAND syndrome harbored the same mutation as the one identified in the family previously reported. We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas\u2010Papas syndrome and discuss genotype\/phenotype correlations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38475","type":"journal-article","created":{"date-parts":[[2017,9,21]],"date-time":"2017-09-21T12:16:42Z","timestamp":1505996202000},"page":"3114-3117","source":"Crossref","is-referenced-by-count":9,"title":["Confirmation that <i>RIPK4<\/i> mutations cause not only Bartsocas\u2010Papas syndrome but also CHAND syndrome"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4454-1979","authenticated-orcid":false,"given":"Tiffany","family":"Busa","sequence":"first","affiliation":[{"name":"Unit\u00e9 de g\u00e9n\u00e9tique clinique, APHM CHU Timone\u2010Enfants Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Jeraiby","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique, Chromosomique et Mol\u00e9culaire CHU\u2010H\u00f4pital Nord Saint Etienne France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alix","family":"Cl\u00e9menson","sequence":"additional","affiliation":[{"name":"Service d'Anatomie et Cytologie Pathologiques CHU\u2010H\u00f4pital Nord Saint Etienne France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Manouvrier","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique m\u00e9dicale H\u00f4pital Jeanne de Flandre CHRU de Lille Lille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viviana","family":"Granados","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique, Chromosomique et Mol\u00e9culaire CHU\u2010H\u00f4pital Nord Saint Etienne France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Philip","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de g\u00e9n\u00e9tique clinique, APHM CHU Timone\u2010Enfants Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renaud","family":"Touraine","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique, Chromosomique et Mol\u00e9culaire CHU\u2010H\u00f4pital Nord Saint Etienne France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,9,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700588"},{"issue":"8","key":"e_1_2_6_3_1","first-page":"100","article-title":"CHANDS: The curly hair\u2010ankyloblepharon\u2010nail dysplasia syndrome","volume":"7","author":"Baughman F. 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