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Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.
Angulo MA, Butler MG, Cataletto ME.
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Prader-Willi Syndrome.
Driscoll DJ, Miller JL, Cassidy SB.
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IMAGe Syndrome.
Schrier Vergano SA, Deardorff MA.
2014 Mar 13 [updated 2021 Aug 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
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.
A rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita.
Mastoropoulou A, Lane AH.
J Pediatr Endocrinol Metab. 2024 Oct 30;37(12):1086-1090. doi: 10.1515/jpem-2024-0321. Print 2024 Dec 17.
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; 1993–2025.
Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production.
Habiby RL, Boepple P, Nachtigall L, Sluss PM, Crowley WF Jr, Jameson JL.
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Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism.
Zhu F, Zhou M, Deng X, Li Y, Xiong J.
Front Endocrinol (Lausanne). 2022 Jun 16;13:897069. doi: 10.3389/fendo.2022.897069. eCollection 2022.
Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita.
Suthiworachai C, Tammachote R, Srichomthong C, Ittiwut R, Suphapeetiporn K, Sahakitrungruang T, Shotelersuk V.
J Endocr Soc. 2018 Dec 12;3(1):171-180. doi: 10.1210/js.2018-00270. eCollection 2019 Jan 1.
