{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:49:10Z","timestamp":1788306550348,"version":"build-2803163510"},"reference-count":24,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T00:00:00Z","timestamp":1621296000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Simpson\u2010Golabi\u2010Behmel syndrome (SGBS) is a rare X\u2010linked condition characterized by pre and postnatal overgrowth with visceral and skeletal abnormalities. The syndrome is caused mainly by mutations in the X\u2010linked gene <jats:italic>GPC3<\/jats:italic>. Clinical presentation of SGBS in affected males is well defined, but there is a lack of knowledge about affected females, with very few reported cases. In total, eight female carriers with clinical expression of SGBS have been reported to date. In the present report, we describe the ninth patient and her family history. The interesting features of our female patient are the Wilms' tumor and the transfontanelar ultrasound findings. The patient's older sister, carrier of the same mutation, has minor facial dysmorphisms but no congenital anomalies and so far, no further clinical findings, as well as her mother and grandmother. There is a lesson to be learned from these rare cases, namely that SGBS may have a significant clinical expression in females, and therefore, screening should be considered in all patients with SGBS regardless of the sex or phenotypic severity.<\/jats:p>","DOI":"10.1002\/ajmg.a.62263","type":"journal-article","created":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T13:05:02Z","timestamp":1621343102000},"page":"2502-2506","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Simpson\u2010Golabi\u2010Behmel syndrome: One family, same mutation, different outcome"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4358-8743","authenticated-orcid":false,"given":"Carla","family":"Fernandes","sequence":"first","affiliation":[{"name":"Department of Pediatric Oncology, Hospital Pedi\u00e1trico, Centro Hospitalar e Universit\u00e1rio de Coimbra  Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Pa\u00fal","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Hospital Pedi\u00e1trico, Centro Hospitalar e Universit\u00e1rio de Coimbra  Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0112-1608","authenticated-orcid":false,"given":"Maria Margarida","family":"Ven\u00e2ncio","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hospital Pedi\u00e1trico, Centro Hospitalar e Universit\u00e1rio de Coimbra  Coimbra Portugal"},{"name":"Medical Genetics Institute \u2013 UC Genomics, Faculty of Medicine University of Coimbra  Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7780-9762","authenticated-orcid":false,"given":"Fabiana","family":"Ramos","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hospital Pedi\u00e1trico, Centro Hospitalar e Universit\u00e1rio de Coimbra  Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,5,18]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"399","article-title":"Skewed X\u2010chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies","volume":"72","author":"Beever C. 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