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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
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
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
Congenital adrenal hypoplasia in siblings.
MITCHELL RG, RHANEY K.
Lancet. 1959 Mar 7;1(7071):488-92. doi: 10.1016/s0140-6736(59)91020-7.
PMID:13632060
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
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
A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of NR0B1 (DAX1) and Contiguous Gene.
Shin C, Kim SE, Moon CJ, Yoo IH, Yim J, Cho WK, Kim M, Lee JH.
Ann Clin Lab Sci. 2023 Jul;53(4):667-670.
PMID:37625843
[A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia].
García-Medina JS, Sarmiento-Ramón MP, Lopera-Cañaveral MV, Zuluaga-Espinosa NA, Forero-Torres AC, Toro-Ramos M, Pineda-Trujillo N.
Andes Pediatr. 2022 Aug;93(4):585-590. doi: 10.32641/andespediatr.v93i4.4019.
PMID:37906859
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