共 44 条
- [21] Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein geneEuropean Journal of Pediatrics, 2012, 171 : 787 - 793Oksana LekarevDelphine MalletTony YuenYves MorelMaria I. New
- [22] Spontaneous feminization in a female patient with congenital adrenal lipoid hyperplasia due to a homozygous Q258X mutation in the steroidogenic acute regulatory protein genePEDIATRICS INTERNATIONAL, 1999, 41 (06) : 682 - 684Nakarai, TSaikawa, YNiida, YKanegane, CHonke, KKoizumi, S
- [23] Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal HyperplasiaPLOS ONE, 2011, 6 (05):Flueck, Christa E.Pandey, Amit V.Dick, BernhardCamats, NuriaFernandez-Cancio, MonicaClemente, MariaGussinye, MiquelCarrascosa, AntonioMullis, Primus E.Audi, Laura
- [24] Nonclassic congenital lipoid adrenal hyperplasia: A new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitaliaJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2006, 91 (12): : 4781 - 4785Baker, Bo Y.Lin, LinKim, Chan J.Raza, JamalSmith, Claire P.Miller, Walter L.Achermann, John C.
- [25] Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides insights into congenital lipoid adrenal hyperplasiaPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (21) : 11540 - 11545Caron, KMSoo, SCWetsel, WCStocco, DMClark, BJParker, KL
- [26] Homozygous Q258X mutation in the steroidogenic acute regulatory gene in a Japanese patient with congenital lipoid adrenal hyperplasiaENDOCRINE JOURNAL, 1997, 44 (03) : 441 - 446Katsumata, NTanae, AShinagawa, TNagashimaMiyokawa, AShimizu, MYasunaga, TTanaka, THibi, I
- [27] A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of swiss ancestry with congenital lipoid adrenal hyperplasiaJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2005, 90 (09): : 5304 - 5308Flück, CEMaret, AMallet, DPortrat-Doyen, SAchermann, JCLeheup, BTheintz, GEMullis, PEMorel, Y
- [28] Two cases of reversible male infertility due to congenital adrenal hyperplasia combined with testicular adrenal rest tumorREPRODUCTIVE MEDICINE AND BIOLOGY, 2018, 17 (01) : 93 - 97Tanaka, MikitoEnatsu, NoritoshiChiba, KojiFujisawa, Masato
- [29] The Novel Mutation p.Trp147Arg of the Steroidogenic Acute Regulatory Protein Causes Classic Lipoid Congenital Adrenal Hyperplasia with Adrenal Insufficiency and 46,XY Disorder of Sex DevelopmentHORMONE RESEARCH IN PAEDIATRICS, 2013, 80 (03): : 163 - 169Yuksel, BilginKulle, Alexandra E.Gurbuz, FatihWelzel, MaikKotan, DamlaMengen, EdaHolterhus, Paul-MartinTopaloglu, Ali KemalGroetzinger, JoachimRiepe, Felix G.
- [30] Novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasiaHUMAN MUTATION, 1998, : S304 - S307Katsumata, NTanae, AShinagawa, TNagashima-Miyokawa, AShimizu, MYasunaga, TTanaka, THibi, I