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A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenita

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주제분류소아과학

참고문헌 (15)

  1. Gupta P, "Adrenal hypoplasia congenitahypogonadotropic hypogonadism syndrome due to NR0B1 gene mutations", Indian J Pediatr, 89, pp.587~590 (2022)
  2. Iyer AK, "Molecular mechanisms of DAX1action", Mol Genet Metab, 83, pp.60~73 (2004)
  3. Reutens AT, "Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita", J Clin Endocrinol Metab, 84, pp.504~511 (1999)
  4. Li H, "The sequence alignment", map format and SAMtools, 2009, pp.25, 2078~2079
  5. Lin L, "Analysis of DAX1(NR0B1)and steroidogenic factor-1(NR5A1)in children and adults with primary adrenal failure : ten years' experience", J Clin Endocrinol Metab, 91, pp.3048~3054 (2006)
  6. Muscatelli F, "Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism", Nature, 372, pp.672~676 (1994)
  7. "NR0B1-related adrenal hypoplasia congenita" (2001)[URL]
  8. Choi JH, "Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita", Horm Res, 63, pp.200~205 (2005)
  9. Lee YW, "Clinical and genetic analysis of a Korean patient with late-onset X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism : identification of a novel mutation in the NR0B1 gene", J Int Med Res, 36, pp.357~361 (2008)
  10. Park SH, "Primary adrenal insufficiency in a newborn with adrenal hypoplasia congenita caused by a mutation of the DAX1 gene", Neonatal Med, 23, pp.53~58 (2016)
  11. Lee JY, "A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea", J Genet Med, 14, pp.27~30 (2017)
  12. Choi HS, "Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita", Ann Pediatr Endocrinol Metab, 26, pp.126~129 (2021)
  13. Shin C, "A case of X-linked adrenal hypoplasia congenital(AHC)due to large deletion of NR0B1(DAX1)and contiguous gene", Ann Clin Lab Sci, 53, pp.667~670 (2023)
  14. Jadhav U, "Hypogonadotropic hypogonadism in subjects with DAX1 mutations", Mol Cell Endocrinol, 346, pp.65~73 (2011)
  15. Lee HS, "Treatment of congenital hypogonadotropic hypogonadism in male patients", Ann Pediatr Endocrinol Metab, 27, pp.176~182 (2022)

관련 논문AI추천

Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita권아름, 김호성, 이진성, 채현욱, Choi Han Saem, Song Kyung Chul, Suh Junghwan대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2021 · 제26권 제2호Primary Adrenal Insufficiency in a Newborn With Adrenal Hypoplasia Congenita Caused by a Mutation of the DAX1 Gene김성신, 박선형, 홍용희대한신생아학회 · Neonatal medicine2016 · 제23권 제1호Testicular microlithiasis in a boy with X-linked adrenal hypoplasia congenitaAnastasios Serbis, Assimina GalliTsinopoulou, Eleni P. Kotanidou, Konstantina Mouzaki, Styliani Giza, Vassiliki Regina Tsinopoulou대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2018 · 제23권 제3호Clinical and molecular review of atypical congenital adrenal hyperplasiaTaninee Sahakitrungruang대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2015 · 제20권 제1호Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutationChae Hyun Wook, Choi Han Saem, Kim Ho-Seong, Kwon Ahreum, Lee Hae In, Song Kyung Chul, Suh Junghwan대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2021 · 제26권 제1호Male hypogonadism caused by a homozygous missense mutation of the LHB geneJie Chen, Wen-ting Wang, Wen-ting Yi, Xiong Wang, Yuan-Qing Cui대한내과학회 · The Korean Journal of Internal Medicine2021 · 제36권 제6호

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