{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T14:16:33Z","timestamp":1789654593699,"version":"4.0.1"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,12,18]],"date-time":"2018-12-18T00:00:00Z","timestamp":1545091200000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:p>Autosomal recessive keratoderma\u2010ichthyosis\u2010deafness (ARKID) syndrome is a rare multisystem disorder caused by biallelic mutations in <jats:italic>VPS33B<\/jats:italic>; only three patients have been reported to date. ARKID syndrome is allelic to arthrogryposis\u2010renal dysfunction\u2010cholestasis (ARC) syndrome (MIM #208085), a severe disorder with early lethality whose phenotypic characteristics also include ichthyosis, hearing loss, severe failure to thrive, platelet dysfunction and osteopenia. We report on an 11\u2010year\u2010old male patient with ARKID syndrome and compound heterozygous <jats:italic>VPS33B<\/jats:italic> mutations, one of which [c.1440delG; p.(Arg481Glyfs*11)] was novel. Clinical features of this patient included ichthyosis, palmoplantar keratosis, hearing loss, intellectual disability, unilateral hip dislocation, microcephaly and short stature. He also had copper hepatopathy and exocrine pancreatic insufficiency, features that have so far been associated with neither ARKID nor ARC syndrome. The patient broadens the clinical and molecular spectrum of ARKID syndrome and contributes to genotype\u2013phenotype associations of this rare disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.40634","type":"journal-article","created":{"date-parts":[[2018,12,18]],"date-time":"2018-12-18T13:08:02Z","timestamp":1545138482000},"page":"2862-2866","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Novel VPS33B mutation in a patient with autosomal recessive keratoderma\u2010ichthyosis\u2010deafness syndrome"],"prefix":"10.1002","volume":"176","author":[{"given":"Svenja","family":"Alter","sequence":"first","affiliation":[{"name":"Faculty of Medicine Institute of Human Genetics, Medical Center \u2010 University of Freiburg  Freiburg 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