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adrenal hypoplasia congenita, AHC相关文献:
Adrenal Hypoplasia.
Saleem F, Baradhi KM.
2023 May 22. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–.
PMID:31747186
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; 1993–2024.
PMID:20301604
Adrenal Hypoplasia Congenita-Hypogonadotropic Hypogonadism Syndrome Due to NR0B1 Gene Mutations.
Gupta P, Sharma R, Jain V.
Indian J Pediatr. 2022 Jun;89(6):587-590. doi: 10.1007/s12098-021-04055-2. Epub 2022 Mar 1.
PMID:35230670
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 congenita presenting as congenital adrenal hyperplasia.
Flint JL, Jacobson JD.
Case Rep Endocrinol. 2013;2013:393584. doi: 10.1155/2013/393584. Epub 2013 Feb 12.
PMID:23476826
Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.
Zheng W, Duan Y, Xia Y, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Zhang H, Han L, Gong Z, Xiao B, Qiu W.
Orphanet J Rare Dis. 2023 May 26;18(1):126. doi: 10.1186/s13023-023-02737-y.
PMID:37237297
New insights into X-linked adrenal hypoplasia congenita from a novel splice-site variant of NR0B1 and adrenal CT images.
Jiang Y, Peng H, Zhao R, Chang Y, Liu J, Fu L, Li L, Ma Y, Li W, Jiang H.
Mol Genet Genomic Med. 2023 Jun;11(6):e2171. doi: 10.1002/mgg3.2171. Epub 2023 Apr 28.
PMID:37118935
Infantile Growth Hormone Deficiency and X- Linked Adrenal Hypoplasia Congenita.
Chung ST, Chi CH, Haymond MW, Jeha GS.
Jacobs J Pediatr. 2015 Nov;1(1):003. Epub 2015 May 4.
PMID:27110597
Testicular microlithiasis in a boy with X-linked adrenal hypoplasia congenita.
Serbis A, Tsinopoulou VR, Mouzaki K, Kotanidou EP, Giza S, Galli-Tsinopoulou A.
Ann Pediatr Endocrinol Metab. 2018 Sep;23(3):162-165. doi: 10.6065/apem.2018.23.3.162. Epub 2018 Sep 28.
PMID:30286574
Adult-onset X-linked adrenal hypoplasia congenita caused by a novel mutation in DAX1/NR0B1: A case report and literature review.
Wang Y, Liu X, Xie X, He J, Gao Y.
Exp Ther Med. 2022 Aug 19;24(4):628. doi: 10.3892/etm.2022.11565. eCollection 2022 Oct.
PMID:36160878
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