{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T17:23:59Z","timestamp":1775841839521,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,16]],"date-time":"2015-09-16T00:00:00Z","timestamp":1442361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003329","name":"Ministerio de Econom\u00eda y Competitividad","doi-asserted-by":"publisher","award":["SAF2012\u201030871"],"award-info":[{"award-number":["SAF2012\u201030871"]}],"id":[{"id":"10.13039\/501100003329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Primordial dwarfism encompasses rare conditions characterized by severe intrauterine growth retardation and growth deficiency throughout life. Recently, three <jats:italic>POC1A<\/jats:italic> mutations have been reported in six families with the primordial dwarfism, SOFT syndrome (Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis). Using a custom\u2010designed Next\u2010generation sequencing skeletal dysplasia panel, we have identified two novel homozygous <jats:italic>POC1A<\/jats:italic> mutations in two individuals with primordial dwarfism. The severe growth retardation and the facial profiles are strikingly similar between our patients and those described previously. However, one of our patients was diagnosed with severe foramen magnum stenosis and subglottic tracheal stenosis, malformations not previously associated with this syndrome. Our findings confirm that <jats:italic>POC1A<\/jats:italic> mutations cause SOFT syndrome and that mutations in this gene should be considered in patients with severe pre\u2010 and postnatal short stature, symmetric shortening of long bones, triangular facies, sparse hair and short, thickened distal phalanges. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37393","type":"journal-article","created":{"date-parts":[[2015,9,16]],"date-time":"2015-09-16T07:47:09Z","timestamp":1442389629000},"page":"210-216","source":"Crossref","is-referenced-by-count":15,"title":["Two novel <i>POC1A<\/i> mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations"],"prefix":"10.1002","volume":"170","author":[{"given":"Jimena","family":"Barraza\u2010Garc\u00eda","sequence":"first","affiliation":[{"name":"Institute of Medical &amp; Molecular Genetics (INGEMM) Hospital Universitario La Paz Universidad Aut\u00f3noma de Madrid IdiPAZ Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto Carlos III Madrid Spain"},{"name":"Multidisciplinary Skeletal Dysplasia Unit (UMDE) Hospital Universitario La Paz Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Iv\u00e1n Rivera\u2010Pedroza","sequence":"additional","affiliation":[{"name":"Institute of Medical &amp; Molecular Genetics (INGEMM) Hospital Universitario La Paz Universidad Aut\u00f3noma de Madrid IdiPAZ Madrid Spain"},{"name":"Multidisciplinary Skeletal Dysplasia Unit (UMDE) Hospital Universitario La Paz Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis","family":"Salamanca","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Hospital Universitario La Paz Universidad Aut\u00f3noma de Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberta","family":"Belinch\u00f3n","sequence":"additional","affiliation":[{"name":"Institute of Medical &amp; Molecular Genetics (INGEMM) Hospital Universitario La Paz Universidad Aut\u00f3noma de Madrid IdiPAZ Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto Carlos III Madrid Spain"},{"name":"Multidisciplinary Skeletal Dysplasia Unit (UMDE) Hospital Universitario La Paz Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanesa","family":"L\u00f3pez\u2010Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto Carlos III Madrid Spain"},{"name":"Department of Pediatrics Medical Genetics Section Hospital Cl\u00ednico Universitario Virgen de la Arrixaca  IMIB\u2010Arrixaca Murcia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luc\u00eda","family":"Sentchordi\u2010Montan\u00e9","sequence":"additional","affiliation":[{"name":"Institute of Medical &amp; Molecular Genetics (INGEMM) Hospital Universitario La Paz Universidad Aut\u00f3noma de Madrid IdiPAZ Madrid Spain"},{"name":"Multidisciplinary Skeletal Dysplasia Unit (UMDE) Hospital Universitario La Paz Madrid Spain"},{"name":"Department of Pediatric Endocrinology Hospital Universitario Infanta Leonor Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1ngela","family":"del Pozo","sequence":"additional","affiliation":[{"name":"Institute of Medical &amp; Molecular Genetics (INGEMM) Hospital Universitario La Paz Universidad Aut\u00f3noma de Madrid IdiPAZ Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto Carlos III Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Santos\u2010Simarro","sequence":"additional","affiliation":[{"name":"Institute of Medical &amp; Molecular Genetics (INGEMM) Hospital Universitario La Paz Universidad Aut\u00f3noma de Madrid IdiPAZ Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto Carlos III Madrid Spain"},{"name":"Multidisciplinary Skeletal Dysplasia Unit (UMDE) Hospital Universitario La Paz Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1ngel","family":"Campos\u2010Barros","sequence":"additional","affiliation":[{"name":"Institute of Medical &amp; 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