{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T13:54:13Z","timestamp":1779890053812,"version":"3.53.1"},"reference-count":18,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,1,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:sec id=\"j_jpem-2018-0272_s_999\">\n<jats:title id=\"d757122e10158\">Background<\/jats:title>\n<jats:p>The genetic causes of abnormal pituitary development have been extensively studied in the last few years. <jats:italic>ROBO1<\/jats:italic> is involved in neurogenesis and axon guidance. Loss-of-function variants in <jats:italic>ROBO1<\/jats:italic> have been associated with pituitary stalk interruption syndrome (PSIS), suggesting that its haploinsufficiency could impair the guidance of hypothalamic axons to the pituitary gland leading to developmental abnormalities.<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_jpem-2018-0272_s_998\">\n<jats:title id=\"d757122e10172\">Case presentation<\/jats:title>\n<jats:p>We report a 4.5-year-old girl with anterior pituitary hypoplasia and pituitary stalk duplication in the ventral-dorsal direction. Her father had a similar pituitary phenotype, characterized by anterior pituitary hypoplasia combined with ectopic posterior pituitary. Comparative genomic hybridization (CGH) microarray analysis identified a 343.7 kb deletion of 3p12.3 encompassing <jats:italic>ROBO1<\/jats:italic> in both individuals.<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_jpem-2018-0272_s_997\">\n<jats:title id=\"d757122e10183\">Conclusions<\/jats:title>\n<jats:p>We report the first familial <jats:italic>ROBO1<\/jats:italic> deletion in two individuals with peculiar pituitary anomalies, including the rare pituitary stalk duplication in the ventral-dorsal direction. These findings widen the spectrum of the phenotypes associated with <jats:italic>ROBO1<\/jats:italic> haploinsufficiency and support its role in human pituitary development.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2018-0272","type":"journal-article","created":{"date-parts":[[2018,12,10]],"date-time":"2018-12-10T09:03:07Z","timestamp":1544432587000},"page":"95-99","source":"Crossref","is-referenced-by-count":16,"title":["Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia"],"prefix":"10.1515","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2194-7239","authenticated-orcid":false,"given":"Marcello","family":"Scala","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Accogli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Maria Elsa","family":"Allegri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Tassano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariasavina","family":"Severino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Morana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad","family":"Maghnie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Capra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref61","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1093\/cvr\/cvy061","article-title":"Slit-Robo signalling in heart 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