{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T13:04:48Z","timestamp":1769605488360,"version":"3.49.0"},"reference-count":19,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,4,8]],"date-time":"2014-04-08T00:00:00Z","timestamp":1396915200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Research Division of the Hospital General de M\u00e9xico, CONACYT","award":["181798"],"award-info":[{"award-number":["181798"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Neonatal hypotonia is a relatively common cause of consultation in daily pediatric practice. It is part of the clinical presentation of a large group of heterogeneous diseases, many of which have an important and classifiable genetic background. Identification of the specific disorder can help optimize the management and treatment of the patient and inform genetic counseling for the family, and therefore input from clinical geneticists is critical at the earliest stages of medical management. Here we present 30 patients with hypotonia of unknown etiology referred by a neuropediatrician to clinical genetics. Clinical, genetic, and molecular evaluation of each patient was performed. Sixty\u2010nine percent of the patients included in the study had a genetic disease, including eight with Prader\u2013Willi syndrome, three with spinal muscular atrophy, one with Rett syndrome, and one with Sotos syndrome harboring a previously undescribed mutation. Our data demonstrate that a multidisciplinary approach used from the outset that includes molecular analysis can help improve diagnosis and management of hypotonic infants. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36543","type":"journal-article","created":{"date-parts":[[2014,4,8]],"date-time":"2014-04-08T21:51:24Z","timestamp":1396993884000},"page":"1702-1705","source":"Crossref","is-referenced-by-count":12,"title":["The high frequency of genetic diseases in hypotonic infants referred by neuropediatrics"],"prefix":"10.1002","volume":"164","author":[{"given":"Zacil","family":"Vilchis","sequence":"first","affiliation":[{"name":"Human Genetic Department Hospital General de M\u00e9xico Eduardo Liceaga\u2010Facultad de Medicina Universidad Nacional Aut\u00f3noma de M\u00e9xico Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nayelli","family":"Najera","sequence":"additional","affiliation":[{"name":"Human Genetic Department Hospital General de M\u00e9xico Eduardo Liceaga\u2010Facultad de Medicina Universidad Nacional Aut\u00f3noma de M\u00e9xico Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javier","family":"P\u00e9rez\u2010Duran","sequence":"additional","affiliation":[{"name":"Colegio de Ciencias Biol\u00f3gicas\u2010Instituto Polit\u00e9cnico Nacional Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zenyesen","family":"Najera","sequence":"additional","affiliation":[{"name":"NanoLab, Next generation technology M\u00e9xico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lourdes","family":"Gonzalez","sequence":"additional","affiliation":[{"name":"Human Genetic Department Hospital General de M\u00e9xico Eduardo Liceaga\u2010Facultad de Medicina Universidad Nacional Aut\u00f3noma de M\u00e9xico Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"del Refugio Rivera","sequence":"additional","affiliation":[{"name":"Human Genetic Department Hospital General de M\u00e9xico Eduardo Liceaga\u2010Facultad de Medicina Universidad Nacional Aut\u00f3noma de M\u00e9xico Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gloria","family":"Queipo","sequence":"additional","affiliation":[{"name":"Human Genetic Department Hospital General de M\u00e9xico Eduardo Liceaga\u2010Facultad de Medicina Universidad Nacional Aut\u00f3noma de M\u00e9xico Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,4,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738050200100401"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-71"},{"key":"e_1_2_6_4_1","first-page":"1236","article-title":"Spectrum of floppy children in Indian scenario","volume":"38","author":"Dua T","year":"2001","journal-title":"Indian Pediatr"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181d6b852"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11920-010-0097-7"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.234609"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10633"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms13011225"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2011.03918.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem.2011.163"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M704304200"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307380401900608"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807308715"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.siny.2010.11.002"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(01)00277-6"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/369284"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/456478"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.4.217"},{"key":"e_1_2_6_20_1","doi-asserted-by":"crossref","first-page":"e125","DOI":"10.1093\/nar\/gnh122","article-title":"A novel real\u2010time PCR assay for quantitative analysis of methylated alleles (QAMA): Analysis of the retinoblastoma locus","volume":"32","author":"Zeschnigk M","year":"2004","journal-title":"Nucleic Acids Res"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36543","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36543","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36543","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T23:32:22Z","timestamp":1696548742000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36543"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,8]]},"references-count":19,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["10.1002\/ajmg.a.36543"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36543","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,8]]}}}