{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T10:09:22Z","timestamp":1760954962534},"reference-count":9,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2007,3,29]],"date-time":"2007-03-29T00:00:00Z","timestamp":1175126400000},"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":[[2007,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a Japanese brother and sister with Martsolf syndrome. They had short stature, severe mental retardation, cataract, hypogonadism, craniofacial dysmorphism, and bone and joint symptoms including scoliosis, lax finger joints, and talipes valgus. Previously undescribed findings included proximal femoral epiphyseal dysplasia reminiscent of Legg\u2013Calve\u2013Perthes disease in both patients, and Klippel\u2013Feil malformation and osteopathia striata in one patient. Brain MRI showed mild frontal and temporal lobe atrophy, and mild ventricular enlargement. Severe GH deficiency was demonstrated after insulin tolerance and glucagon\/propranolol tolerance tests. No responses to serum LH and FSH after a gonadotropin\u2010releasing hormone (GnRH) test suggested secondary hypogonadism, that is, hypogonadotropic hypogonadism, due to hypothalamus\u2010pituitary axis insufficiency in both patients. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31626","type":"journal-article","created":{"date-parts":[[2007,3,29]],"date-time":"2007-03-29T18:02:07Z","timestamp":1175191327000},"page":"973-978","source":"Crossref","is-referenced-by-count":12,"title":["Martsolf syndrome in Japanese siblings"],"prefix":"10.1002","volume":"143A","author":[{"given":"Hiroaki","family":"Ehara","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasushi","family":"Utsunomiya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Ieshima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshihiro","family":"Maegaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenzo","family":"Takeshita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kousaku","family":"Ohno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,3,29]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(00)00540-6"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/502681"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.6.397"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441986"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010305"},{"key":"e_1_2_4_7_1","first-page":"637","article-title":"Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: A second family with micro syndrome or a new syndrome?","volume":"36","author":"M\u00e9garban\u00e9 A","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.4.308"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.4.267"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1993.02160360051017"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31626","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31626","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T13:43:00Z","timestamp":1697636580000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31626"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,3,29]]},"references-count":9,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2007,5]]}},"alternative-id":["10.1002\/ajmg.a.31626"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31626","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,3,29]]}}}