{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T16:16:07Z","timestamp":1760890567246},"reference-count":15,"publisher":"Wiley","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2011]]},"abstract":"<jats:p>Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and midface in humans. sporadic and inherited mutations in the human sonic hedgehog (SHH) gene cause 37% of familial HPE. A couple was referred to our unit with a family history of two spontaneous first trimester miscarriages and a daughter with HPE who presented early neonatal death. The father had a repaired median cleft lip, absence of central incisors, facial medial hypoplasia, and cleft palate. Intelligence and a brain CT scan were normal. Direct paternal sequencing analysis showed a novel nonsense mutation (W127X). Facial characteristics are considered as HPE microforms, and the pedigree suggested autosomal dominant inheritance with a variable expression of the phenotype. This study reinforces the importance of an exhaustive evaluation of couples with a history of miscarriages and neonatal deaths with structural defects.<\/jats:p>","DOI":"10.1155\/2011\/703497","type":"journal-article","created":{"date-parts":[[2011,9,9]],"date-time":"2011-09-09T04:38:44Z","timestamp":1315543124000},"page":"1-3","source":"Crossref","is-referenced-by-count":0,"title":["Novel Sonic Hedgehog Mutation in a Couple with Variable Expression of Holoprosencephaly"],"prefix":"10.1155","volume":"2011","author":[{"given":"M.","family":"Aguinaga","sequence":"first","affiliation":[{"name":"Genetics Department, Instituto Nacional de Perinatolog\u00eda, Montes Urales 800. Col. Lomas Virreyes, 11000 M\u00e9xico, DF, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Llano","sequence":"additional","affiliation":[{"name":"Genetics Department, Instituto Nacional de Perinatolog\u00eda, Montes Urales 800. Col. Lomas Virreyes, 11000 M\u00e9xico, DF, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. C.","family":"Zenteno","sequence":"additional","affiliation":[{"name":"Genetics Department and Research Unit, Instituto de Oftalmolog\u00eda \u201cConde de Valenciana\u201d, Avenida Chimalpopoca 14, Colonia Obrera, 06800 M\u00e9xico, DF, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Kofman Alfaro","sequence":"additional","affiliation":[{"name":"Genetics Department, Hospital General de M\u00e9xico, Dr. Balmis 148, 06726 Mexico, DF, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"issue":"3","key":"1","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/tera.1420160304","volume":"16","year":"1977","journal-title":"Teratology"},{"issue":"3","key":"2","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1002\/tera.1420400304","volume":"40","year":"1989","journal-title":"Teratology"},{"issue":"2","key":"3","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1002\/ajmg.1320370216","volume":"37","year":"1990","journal-title":"American Journal of Medical Genetics"},{"issue":"3","key":"4","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1038\/ng1196-353","volume":"14","year":"1996","journal-title":"Nature Genetics"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050486"},{"issue":"13","key":"6","doi-asserted-by":"crossref","first-page":"2479","DOI":"10.1093\/hmg\/8.13.2479","volume":"8","year":"1999","journal-title":"Human Molecular Genetics"},{"issue":"2","key":"7","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1002\/1098-1004(200008)16:2<99::AID-HUMU2>3.0.CO;2-0","volume":"16","year":"2000","journal-title":"Human Mutation"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10258"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-0097-6"},{"issue":"2","key":"10","first-page":"112","volume":"117","year":"2003","journal-title":"American Journal of Medical Genetics"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1086\/344412"},{"issue":"12","key":"15","first-page":"924","volume":"36","year":"1999","journal-title":"Journal of Medical Genetics"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30253"},{"issue":"3","key":"13","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/ng1196-357","volume":"14","year":"1996","journal-title":"Nature Genetics"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.9.1683"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2011\/703497.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2011\/703497.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2011\/703497.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,20]],"date-time":"2017-06-20T06:01:46Z","timestamp":1497938506000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crig\/2011\/703497\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"references-count":15,"alternative-id":["703497","703497"],"URL":"https:\/\/doi.org\/10.1155\/2011\/703497","relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"type":"print","value":"2090-6544"},{"type":"electronic","value":"2090-6552"}],"subject":[],"published":{"date-parts":[[2011]]}}}