PIK3CA-Related Overgrowth Spectrum.
Mirzaa G, Graham JM Jr, Keppler-Noreuil K.
2013 Aug 15 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
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.
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.
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.
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.
Classification of Systemic and Localized Sweating Disorders.
Ohshima Y, Tamada Y.
Curr Probl Dermatol. 2016;51:7-10. doi: 10.1159/000446753. Epub 2016 Aug 30.
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.
