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congenital adrenal hypoplasia of maternal cause相关文献:
NR0B1-Related Adrenal Hypoplasia Congenita.
Achermann JC, Vilain EJ.
2001 Nov 20 [updated 2018 Jan 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301604
Cytochrome P450 Oxidoreductase Deficiency.
Idkowiak J, Cragun D, Hopkin RJ, Arlt W.
2005 Sep 8 [updated 2017 Aug 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301592
Adrenal hypoplasia congenita in identical twins.
Al Amer AM, Al Rubaya KM, Alzahrani AS.
Saudi Med J. 2019 Jan;40(1):87-92. doi: 10.15537/smj.2019.1.23337.
PMID:30617386
Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: case report.
Durković J, Milenković T, Krone N, Parajes S, Mandić B.
Srp Arh Celok Lek. 2014 Nov-Dec;142(11-12):728-31. doi: 10.2298/sarh1412728d.
PMID:25731006
Three cases of congenital adrenal hypoplasia: a cause of salt-wasting and mortality in the neonatal period.
Batch JA, Montalto J, Yong AB, Gold H, Goss P, Warne GL.
J Paediatr Child Health. 1991 Apr;27(2):108-12. doi: 10.1111/j.1440-1754.1991.tb00363.x.
PMID:1883648
Prenatal diagnosis of congenital adrenal hypoplasia.
Peter M, Partsch CJ, Dörr HG, Sippell WG.
Horm Res. 1996 Jul;46(1):41-5. doi: 10.1159/000184976.
PMID:8854139
Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome.
Burke BA, Wick MR, King R, Thompson T, Hansen J, Darrae BT, Francke U, Seltzer WK, McCabe ER, Scheithauer BW.
Am J Med Genet. 1988 Sep;31(1):75-97. doi: 10.1002/ajmg.1320310111.
PMID:2906226
Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Qin G, Ji H, Li X, Ma X, Wang D.
J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):809-14. doi: 10.1515/jpem-2014-0156.
PMID:25968435
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.
Capalbo D, Moracas C, Cappa M, Balsamo A, Maghnie M, Wasniewska MG, Greggio NA, Baronio F, Bizzarri C, Ferro G, Di Lascio A, Stancampiano MR, Azzolini S, Patti G, Longhi S, Valenzise M, Radetti G, Betterle C, Russo G, Salerno M.
J Clin Endocrinol Metab. 2021 Mar 8;106(3):762-773. doi: 10.1210/clinem/dgaa881.
PMID:33247909
A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia.
Wu SM, Gao JZ, He B, Long WJ, Luo XP, Chen L.
Curr Med Sci. 2020 Feb;40(1):172-177. doi: 10.1007/s11596-020-2161-9. Epub 2020 Mar 13.
PMID:32166680
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