{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T13:09:00Z","timestamp":1790860140042,"version":"4.1.0"},"reference-count":8,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,4,29]],"date-time":"2015-04-29T00:00:00Z","timestamp":1430265600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000051","name":"NHGRI","doi-asserted-by":"crossref","award":["1UO1HG006487-01"],"award-info":[{"award-number":["1UO1HG006487-01"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>The Multiple Congenital Anomalies\u2010Hypotonia\u2010Seizures Syndrome 1 (MCAHS1) has been described in two families to date. We describe a 2\u2010year\u2010old Mexican American boy with the syndrome and additional manifestations not yet reported as part of the phenotype. The patient presented with severe hypotonia, microphallus and left cryptorchidism, and was later diagnosed with epilepsy and severe cortical visual impairment. He also had supernumerary nipples, pectus excavatum, a short upturned nose, fleshy ear lobes, and a right auricular pit. Massively parallel exome sequencing and analysis revealed two novel compound heterozygous missense (Trp136Gly and Ser859Thr) variants in the <jats:italic>PIGN<\/jats:italic> gene. This report extends and further defines the phenotype of this syndrome. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37129","type":"journal-article","created":{"date-parts":[[2015,4,29]],"date-time":"2015-04-29T11:15:22Z","timestamp":1430306122000},"page":"2176-2181","source":"Crossref","is-referenced-by-count":25,"title":["The phenotype of multiple congenital anomalies\u2010hypotonia\u2010seizures syndrome 1: Report and review"],"prefix":"10.1002","volume":"167","author":[{"given":"Natario L.","family":"Couser","sequence":"first","affiliation":[{"name":"Department of Ophthalmology University of North Carolina School of Medicine Chapel Hill North Carolina"},{"name":"Department of Pediatrics University of North Carolina School of Medicine Chapel Hill North Carolina"},{"name":"Department of Genetics University of North Carolina School of Medicine Chapel Hill North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maheer 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