{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T13:32:27Z","timestamp":1770903147324,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2009,10,16]],"date-time":"2009-10-16T00:00:00Z","timestamp":1255651200000},"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":[[2009,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Microphthalmic syndrome 9 (OMIM601186) is a genetically and phenotypically variable condition, comprising anophthalmia, pulmonary hypoplasia, diaphragmatic hernia, and cardiac malformations (PDAC syndrome). Reported cases have all been associated with fetal\/neonatal death or developmental delay. Recessive stimulated by retinoic acid gene 6 homolog (<jats:italic>STRA6<\/jats:italic>) mutations have recently been identified as the cause of cases of PDAC in which distinct, \u201cbushy\u201d eyebrows have been observed. We describe a patient with clinical anophthalmia, bushy eyebrows, patent ductus arteriosus, and normal development at age 30 months, who is a compound heterozygote for two novel <jats:italic>STRA6<\/jats:italic> missense mutations. This patient's phenotype is consistent with the multisystemic malformations of PDAC syndrome, but is somewhat milder. This is the first living patient with compound heterozygous <jats:italic>STRA6<\/jats:italic> mutations, which may explain her milder phenotype. We conclude that <jats:italic>STRA6<\/jats:italic> analysis should be considered in all patients with clinical anophthalmia. Genetic counseling should be cautious with respect to long\u2010term developmental outcomes. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33038","type":"journal-article","created":{"date-parts":[[2009,10,16]],"date-time":"2009-10-16T18:18:17Z","timestamp":1255717097000},"page":"2457-2463","source":"Crossref","is-referenced-by-count":35,"title":["Pulmonary hypoplasia\u2013diaphragmatic hernia\u2013anophthalmia\u2013cardiac defect (PDAC) syndrome due to <i>STRA6<\/i> mutations\u2014What are the minimal criteria?"],"prefix":"10.1002","volume":"149A","author":[{"given":"Reeval","family":"Segel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ephrat","family":"Levy\u2010Lahad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Pasutto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elie","family":"Picard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anita","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gheona","family":"Alterescu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael S.","family":"Schimmel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,10,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1154-2"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990903)86:1<6::AID-AJMG2>3.0.CO;2-2"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1002040404"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(97)00039-7"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31788"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513818909022379"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/518177"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1136244"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31298"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31599"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.1.16"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.3109\/00313027809063507"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/512203"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-002-2106-2"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200401000-00013"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000181604.78252.29"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<227::AID-AJMG5>3.0.CO;2-Q"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280543"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10167"},{"key":"e_1_2_6_21_1","first-page":"32","article-title":"Distribution of single organ malformations in European populations. 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