{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T08:40:25Z","timestamp":1696668025767},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,1,24]],"date-time":"2016-01-24T00:00:00Z","timestamp":1453593600000},"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":[[2016,5]]},"abstract":"<jats:sec><jats:label \/><jats:p>Crisponi\/CISS1 syndrome (MIM#272430) is a rare autosomal recessive disease characterized by major feeding difficulties, camptodactyly, and anhidrosis in early childhood; and the subsequent development of paradoxical cold\u2010induced sweating and scoliosis later in life. The syndrome is caused by biallelic mutations in <jats:italic>CRLF1<\/jats:italic> or, much less commonly, <jats:italic>CLCF1<\/jats:italic>. Although genotype\/phenotype correlation has been elusive, it has been suggested that the level of the mutant protein may correlate with the phenotypic severity. However, we show in this series of 12 patients from four families, all previously unpublished, that the homogeneity of the recently described c.983dupG (p.Ser328Argfs\u22172) mutation in <jats:italic>CRLF1<\/jats:italic> was associated with a highly variable degree of severity, and that the phenotype significantly overlaps with the recently described <jats:italic>COG6<\/jats:italic>\u2010related anhidrosis syndrome (MIM#615328). Another fifth previously unpublished family is also described with a novel mutation in <jats:italic>CRLF1<\/jats:italic>, c.605delC (p.Ala202Valfs*32). In Saudi Arabia the prevalence of the syndrome is probably underestimated due to the difficulty in making the diagnosis considering the complex phenotype with typical neonatal and evolutive features. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37569","type":"journal-article","created":{"date-parts":[[2016,1,25]],"date-time":"2016-01-25T04:48:43Z","timestamp":1453697323000},"page":"1236-1241","source":"Crossref","is-referenced-by-count":5,"title":["Crisponi\/CISS1 syndrome: A case series"],"prefix":"10.1002","volume":"170","author":[{"given":"Amal M.","family":"Alhashem","sequence":"first","affiliation":[{"name":"Department of Pediatrics Prince Sultan Military Medical City Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad Ali","family":"Majeed\u2013Saidan","sequence":"additional","affiliation":[{"name":"Department of Medical Services\u2014Birth Defect Registry (MSD\u2010BDR) Office Prince Sultan Military 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