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congenital adrenal hypoplasia相关文献:
Congenital adrenal hypoplasia.
COX PJ.
Proc R Soc Med. 1962 Nov;55(11):981-2. doi: 10.1177/003591576205501122.
PMID:14023572
Congenital adrenal hypoplasia due to p.Leu386Pro mutation in DAX1.
Vázquez-Temprano N, Sánchez-Sobrino P, Díaz-Trastoy O.
Med Clin (Barc). 2021 Jun 11;156(11):580-581. doi: 10.1016/j.medcli.2020.02.013. Epub 2020 May 30.
PMID:32482417
X-linked congenital adrenal hypoplasia: a case presentation.
Ouyang H, Chen B, Wu N, Li L, Du R, Qian M, Yu W, He Y, Liu X.
BMC Endocr Disord. 2021 Jun 15;21(1):118. doi: 10.1186/s12902-021-00785-8.
PMID:34130666
Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia.
Amano N, Narumi S, Aizu K, Miyazawa M, Okamura K, Ohashi H, Katsumata N, Ishii T, Hasegawa T.
J Clin Endocrinol Metab. 2024 Feb 20;109(3):641-648. doi: 10.1210/clinem/dgad627.
PMID:37878959
Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion).
Wikiera B, Jakubiak A, Zimowski J, Noczyńska A, Smigiel R.
Pediatr Endocrinol Diabetes Metab. 2012;18(4):153-7.
PMID:23739620
[CONGENITAL ADRENAL HYPOPLASIA IN INFANTS UNDER THE AGE OF 2 YEARS].
PATZER T.
Pediatr Pol. 1964 Mar;39:327-35.
PMID:14140306
X-linked congenital adrenal hypoplasia: Report of long clinical follow-up and description of a new complex variant in the NR0B1 gene.
Esquiaveto-Aun AM, de Mello MP, Guaragna MS, da Silva Lopes VLG, Francese-Santos AP, Dos Santos Cruz Piveta C, Mazolla TN, de Lemos-Marini SHV, Guerra-Junior G.
Am J Med Genet A. 2024 Jun;194(6):e63536. doi: 10.1002/ajmg.a.63536. Epub 2024 Jan 19.
PMID:38243380
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
Adrenal hypoplasia.
WINQUIST PG.
Arch Pathol. 1961 Mar;71:324-9.
PMID:13785884
A Pitfall of Adrenal Hypoplasia Congenita.
Abe J, Tsubaki J, Shimura K, Hasegawa T.
Clin Pediatr (Phila). 2024 Oct;63(9):1318-1320. doi: 10.1177/00099228231222714. Epub 2024 Jan 27.
PMID:38279818
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