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.
Transition of care for adolescents from paediatric services to adult health services.
Campbell F, Biggs K, Aldiss SK, O'Neill PM, Clowes M, McDonagh J, While A, Gibson F.
Cochrane Database Syst Rev. 2016 Apr 29;4(4):CD009794. doi: 10.1002/14651858.CD009794.pub2.
PMM2-CDG.
Lam C, Krasnewich DM.
2005 Aug 15 [updated 2021 May 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Encephalocraniocutaneous Lipomatosis.
Moog U, Dobyns WB.
2022 Jan 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.
Musculocontractural Ehlers-Danlos Syndrome.
Kosho T, Yamaguchi T, Mizumoto S, Mendoza-Londono R.
2025 May 15. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Klippel Feil Syndrome.
Menger RP, Rayi A, Notarianni C.
2024 May 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
CHD4 Neurodevelopmental Disorder.
Weiss K, Lachlan K.
2020 Sep 3. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Analysis of risk factors and treatment outcome in patients presenting with neglected congenital spinal deformity and neurological deficit.
Rajavelu R, Shetty AP, Viswanathan VK, Kanna RM, Rajasekaran S.
Spine Deform. 2022 Mar;10(2):401-410. doi: 10.1007/s43390-021-00427-y. Epub 2021 Oct 19.
Congenital spinal dermal tract: how accurate is clinical and radiological evaluation?
Tisdall MM, Hayward RD, Thompson DN.
J Neurosurg Pediatr. 2015 Jun;15(6):651-6. doi: 10.3171/2014.11.PEDS14341. Epub 2015 Mar 13.
A systematic review and bibliometric study of Bertolotti's syndrome: clinical characteristics and global trends.
Zhu W, Ding X, Zheng J, Zeng F, Zhang F, Wu X, Sun Y, Ma J, Yin M.
Int J Surg. 2023 Oct 1;109(10):3159-3168. doi: 10.1097/JS9.0000000000000541.
