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FTHS is characterized by multiple skeletal abnormalities, developmental delay and severe craniofacial dysmorphology. This study provides an in-depth characterization of the calvarial phenotype of a mouse model of FTHS and investigates the potential underlying molecular and transcriptomic mechanisms. The Sh3Pxd2bnee\u2212\/\u2212 mouse presents with craniofacial malformations and disrupted suture patterning, as well as reduced osteoregeneration and decreased cell proliferation and migration observed both in vitro and in vivo, and impaired podosome formation. Transcriptomic analysis revealed downregulation of genes involved in ribosome biogenesis. Moreover, ribosomal RNA accumulates in cell protrusions of migrating cells. We established that the craniofacial phenotype of the Sh3Pxd2bnee\u2212\/\u2212 mouse is governed by impaired cell migration and proliferation due to dysfunctional podosome formation, particularly in neural crest-derived tissues. Transcriptomic and molecular data suggest altered ribosome-related processes, although further investigation is needed to clarify the underlying mechanisms.<\/jats:p>","DOI":"10.1242\/dev.204631","type":"journal-article","created":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T08:45:55Z","timestamp":1768207555000},"source":"Crossref","is-referenced-by-count":2,"title":["The\n                    <i>Sh3Pxd2bnee\u2212\/\u2212<\/i>\n                    mouse reveals developmental features of Frank-ter Haar syndrome"],"prefix":"10.1242","volume":"153","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-1294-7794","authenticated-orcid":false,"given":"Julika","family":"Huber","sequence":"first","affiliation":[{"name":"Stanford University School of Medicine 1 Department of Surgery, Division of Plastic and Reconstructive Surgery , , Stanford, CA 94305 ,","place":["USA"]},{"name":"BG University Hospital Bergmannsheil, Ruhr University Bochum 2 Department of Plastic Surgery , , 44789 Bochum ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siddharth","family":"Menon","sequence":"additional","affiliation":[{"name":"Stanford University School of Medicine 1 Department of Surgery, Division of Plastic and Reconstructive Surgery , , Stanford, CA 94305 ,","place":["USA"]},{"name":"Stanford Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine 3 , Stanford, CA 94305 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Lopez-Torres","sequence":"additional","affiliation":[{"name":"Stanford University School of Medicine 1 Department of Surgery, Division of Plastic and Reconstructive Surgery , , Stanford, CA 94305 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason L.","family":"Guo","sequence":"additional","affiliation":[{"name":"Stanford University School of Medicine 1 Department of Surgery, Division of Plastic and Reconstructive Surgery , , Stanford, CA 94305 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael T.","family":"Longaker","sequence":"additional","affiliation":[{"name":"Stanford University School of Medicine 1 Department of Surgery, Division of Plastic and Reconstructive Surgery , , Stanford, CA 94305 ,","place":["USA"]},{"name":"Stanford Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine 3 , Stanford, CA 94305 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2026,2,2]]},"reference":[{"key":"2026020209534619600_DEV204631C1","doi-asserted-by":"publisher","first-page":"1438","DOI":"10.1172\/JCI38019","article-title":"Epithelial-mesenchymal transitions: the importance of changing cell state in development and disease","volume":"119","author":"Acloque","year":"2009","journal-title":"J. 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