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type 1 familial glucocorticoid deficiency (FGD type 1)相关文献:
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
PMID:
A Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency.
Mohammed I, Haris B, Hussain K.
J Endocr Soc. 2022 Apr 8;6(6):bvac058. doi: 10.1210/jendso/bvac058. eCollection 2022 Jun 1.
PMID:35506146
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
Chung TT, Chan LF, Metherell LA, Clark AJ.
Clin Endocrinol (Oxf). 2010 May;72(5):589-94. doi: 10.1111/j.1365-2265.2009.03663.x. Epub 2009 Jun 24.
PMID:19558534
Adrenocorticotropin resistance syndromes.
Cooray SN, Chan L, Metherell L, Storr H, Clark AJL.
Endocr Dev. 2008;13:99-116. doi: 10.1159/000134828.
PMID:18493136
Familial glucocorticoid deficiency: New genes and mechanisms.
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJ, Metherell LA.
Mol Cell Endocrinol. 2013 May 22;371(1-2):195-200. doi: 10.1016/j.mce.2012.12.010. Epub 2012 Dec 29.
PMID:23279877
Antenatal diagnosis and early postnatal management of a neonate with type 1 familial glucocorticoid deficiency.
Chougula PV, Deshpande S, Datar C, Suryawanshi P.
BMJ Case Rep. 2025 Feb 24;18(2):e264598. doi: 10.1136/bcr-2024-264598.
PMID:40000035
ACTH Action on the Adrenals.
Angelousi A, Margioris AN, Tsatsanis C.
2020 Jun 13. In: Feingold KR, Ahmed SF, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, Muzumdar R, Purnell J, Rey R, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–.
PMID:25905342
Establishment of human induced pluripotent stem cell line SDQLCHi029-A from one Type 1 familial glucocorticoid deficiency patient carrying compound heterozygote mutations in MC2R gene.
Zhang H, Liu C, Liu Y, Gai Z.
Stem Cell Res. 2024 Apr;76:103368. doi: 10.1016/j.scr.2024.103368. Epub 2024 Feb 27.
PMID:38430736
Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: A case report.
Chen C, Zhou R, Fang Y, Jiang L, Liang L, Wang C.
Mol Genet Metab Rep. 2016 Sep 10;9:15-7. doi: 10.1016/j.ymgmr.2016.09.003. eCollection 2016 Dec.
PMID:27660747
A novel mutation in the MC2R gene causing familial glucocorticoid deficiency type 1.
Akin MA, Akin L, Coban D, Ozturk MA, Bircan R, Kurtoglu S.
Neonatology. 2011;100(3):277-81. doi: 10.1159/000323913. Epub 2011 Jun 23.
PMID:21701219
Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature.
Abuduxikuer K, Li ZD, Xie XB, Li YC, Zhao J, Wang JS.
Front Endocrinol (Lausanne). 2019 Jun 6;10:359. doi: 10.3389/fendo.2019.00359. eCollection 2019.
PMID:31244773
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