PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Annals of Pediatric Endocrinology & Metabolism10.6065/apem.2013.18.2.90201318290Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndromeJi Won Koh, So Young Kang, Gu Hwan Kim, Han Wook Yoo, Jeesuk Yuhttp://e-apem.org/upload/pdf/apem-18-90.pdf
Hormone Research in Paediatrics10.1159/0002088042009715298-304A Case of X-Linked Adrenal Hypoplasia Congenita, Central Precocious Puberty and Absence of the <i>DAX-1</i> Gene: Implications for Pubertal RegulationKah-Yin Loke, Larry Kok-Seng Poh, Warren Wei-Rhen Lee, Poh-San Laihttps://www.karger.com/Article/Pdf/208804, https://www.karger.com/Article/Pdf/208804
BMC Endocrine Disorders10.1186/s12902-021-00876-62021211A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case reportAsanka Rathnasiri, Udara Senarathne, Visvalingam Arunath, Thabitha Hoole, Ishara Kumarasiri, Oshanie Muthukumarana, Eresha Jasinge, Sachith Mettanandahttps://link.springer.com/content/pdf/10.1186/s12902-021-00876-6.pdf, https://link.springer.com/article/10.1186/s12902-021-00876-6/fulltext.html, https://link.springer.com/content/pdf/10.1186/s12902-021-00876-6.pdf
Hormone Research in Paediatrics10.1159/0004951892018915336-345Gonadotropin- and Adrenocorticotropic Hormone-Independent Precocious Puberty of Gonadal Origin in a Patient with Adrenal Hypoplasia Congenita Due to DAX1 Gene Mutation – A Case Report and Review of the Literature: Implications for the PathomechanismStella A. Nagel, Michaela F. Hartmann, Felix G. Riepe, Stefan A. Wudy, Martin Wabitschhttps://www.karger.com/Article/Pdf/495189, https://www.karger.com/Article/Pdf/495189
Clinical Endocrinology10.1046/j.1365-2265.2000.01037.x2000531127-129Prolonged activation of the hypothalamus- pituitary-gonadal axis in a child with X-linked adrenal hypoplasia congenitaIkuko Takahashi, Tsutomu Takahashi, Yasuko Shoji, Goro Takadahttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1365-2265.2000.01037.x, https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1365-2265.2000.01037.x, http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2265.2000.01037.x/fullpdf
Human Genetics10.1007/bf002018481991864Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenitaM. Stuhrmann, H. Heilbronner, A. Reis, R.-D. Wegner, P. Fischer, J. Schmidtkehttp://link.springer.com/content/pdf/10.1007/BF00201848.pdf, http://link.springer.com/article/10.1007/BF00201848/fulltext.html, http://link.springer.com/content/pdf/10.1007/BF00201848
American Journal of Medical Genetics10.1002/(sici)1096-8628(19970613)70:3<216::aid-ajmg2>3.0.co;2-u1997703216-221Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosumSergio E. Baranzini, Graciela del Rey, Nora Nigro, Irene Szijan, Néstor Chamoles, Juan C. Crestohttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1096-8628(19970613)70:3%3C216::AID-AJMG2%3E3.0.CO;2-U, https://onlinelibrary.wiley.com/doi/full/10.1002/(SICI)1096-8628(19970613)70:3%3C216::AID-AJMG2%3E3.0.CO;2-U
Mental Retardation and Developmental Disabilities Research Reviews10.1002/(sici)1098-2779(1996)2:3<160::aid-mrdd7>3.0.co;2-w199623160-166Complex glycerol kinase deficiency: A contiguous gene syndrome involving the Duchenne muscular dystrophy, glycerol kinase, and adrenal hypoplasia congenita lociEdward R. B. McCabe, Weiwen Guo, Thomas P. Burrishttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1098-2779(1996)2:3%3C160::AID-MRDD7%3E3.0.CO;2-W, https://onlinelibrary.wiley.com/doi/full/10.1002/(SICI)1098-2779(1996)2:3%3C160::AID-MRDD7%3E3.0.CO;2-W
Clinical Chemistry10.1093/clinchem/40.11.2099199440112099-2103Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndromeD E Cole, L A Clarke, D C Riddell, K A Samson, W K Seltzer, S Salisburyhttp://academic.oup.com/clinchem/article-pdf/40/11/2099/32748179/clinchem2099.pdf, http://academic.oup.com/clinchem/article-pdf/40/11/2099/32748179/clinchem2099.pdf
Pediatrics International10.1111/j.1442-200x.2007.02416.x2007494526-529X-linked adrenal hypoplasia congenita: Testicular histology before pubertyMAYAKO MORII, TSUTOMU TAKAHASHI, IKUKO TAKAHASHI, KAZUO KOMATSU, MASATO SAGISHIMA, HIROSHI NANJO, HIROAKI YOSHINO, TATSUZO HEBIGUCHI, TETSUO KATO, GORO TAKADAhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1442-200X.2007.02416.x, http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1442-200X.2007.02416.x/fullpdf