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congenital adrenal hypoplasia相关文献:
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
Congenital adrenal hypoplasia.
COX PJ.
Proc R Soc Med. 1962 Nov;55(11):981-2.
PMID:14023572
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
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
X-linked Congenital Adrenal Hypoplasia with a Novel NR0B1/DAX Gene Mutation.
Abraham MB, Shetty VB, McKenzie F, Curran J.
Indian Pediatr. 2016 Jun 8;53(6):529-31. doi: 10.1007/s13312-016-0885-1.
PMID:27376611
[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
Congenital adrenal hypoplasia and hypogonadotropic hypogonadism: phenotypic variability of the DAX-1 gene R267P mutation.
Sánchez-Pacheco M, Moreno-Pérez O, Sánchez-Ortiga R, Picó A, Moreno F.
Endocrinol Nutr. 2012 Feb;59(2):140-2. doi: 10.1016/j.endonu.2011.05.016. Epub 2011 Sep 16.
PMID:21925982
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