PIK3CA-Related Overgrowth Spectrum.
Mirzaa G, Graham JM Jr, Keppler-Noreuil K.
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Beckwith-Wiedemann Syndrome.
Shuman C, Kalish JM, Weksberg R.
2000 Mar 3 [updated 2023 Sep 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
MUTYH Polyposis.
Nielsen M, Infante E, Brand R.
2012 Oct 4 [updated 2021 May 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Peripheral precocious puberty including congenital adrenal hyperplasia: causes, consequences, management and outcomes.
Haddad NG, Eugster EA.
Best Pract Res Clin Endocrinol Metab. 2019 Jun;33(3):101273. doi: 10.1016/j.beem.2019.04.007. Epub 2019 Apr 13.
[X-linked congenital adrenal dysplasia with hypogonadotropic hypogonadism: a case report].
Yan DD, Yu HY, Bao YQ, Wu SH, Liu F.
Zhonghua Nei Ke Za Zhi. 2020 Nov 1;59(11):905-908. doi: 10.3760/cma.j.cn112138-20191226-00841.
Case report: Clinical characteristics and treatment of secondary osteoporosis induced by X-linked congenital adrenal dysplasia.
Tao X, Xu T, Liu L, Lin X, Zhang Z, Yue H.
Front Endocrinol (Lausanne). 2022 Dec 8;13:961322. doi: 10.3389/fendo.2022.961322. eCollection 2022.
APC-Associated Polyposis Conditions.
Yen T, Stanich PP, Axell L, Patel SG.
1998 Dec 18 [updated 2022 May 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Septo-optic dysplasia with congenital hepatic fibrosis.
Minami K, Izumi G, Yanagawa T, Shimoyamada Y, Yoshikawa N.
Pediatr Neurol. 2003 Aug;29(2):157-9. doi: 10.1016/s0887-8994(03)00147-4.
Growth abnormalities associated with adrenal disorders and their management.
Savage MO, Lebrethon MC, Blair JC, Ho JT, Johnston LB, Lienhardt A, Clark AJ, Chaussain JL.
Horm Res. 2001;56 Suppl 1:19-23. doi: 10.1159/000048129.
Znrf3 exon 2 deletion mice do not recapitulate congenital adrenal hypoplasia.
Uchida N, Ishii T, Amano N, Takada S, Kobayashi K, Murakami T, Narumi S, Hasegawa T.
J Mol Endocrinol. 2024 Oct 7;73(4):e240015. doi: 10.1530/JME-24-0015. Print 2024 Nov 1.
