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.
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J, Nair A, Sheth F, Ajagekar M, Dhondekar T, Panigrahi I, Bavdekar A, Nampoothiri S, Datar C, Gandhi A, Muranjan M, Kaur A, Desai M, Mistri M, Patel C, Naik P, Shah M, Godbole K, Kapoor S, Gupta N, Bijarnia-Mahay S, Kadam S, Solanki D, Desai S, Iyer A, Patel K, Patel H, Shah RC, Mehta S, Shah R, Bhavsar R, Shah J, Pandya M, Patel B, Shah S, Shah H, Shah S, Bajaj S, Shah S, Thaker N, Kalane U, Kamate M, Kn VR, Tayade N, Jagadeesan S, Jain D, Chandarana M, Singh J, Mehta S, Suresh B, Sheth H.
Orphanet J Rare Dis. 2024 Aug 13;19(1):295. doi: 10.1186/s13023-024-03300-z.
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.
