(en) Clayton-Smith J, Kerr B, Brunner H, Tranebjaerg L, Magee A, Hennekam RC et al., « "Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome." », Clin Dysmorphol 6, 1997, p. 291–302 (ISSN doi:10.1097/00019605-199710000-00001, PMID9354837)
Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD et al. (1997). "Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.". American Journal of Medical Genetics 70 (1): 67–73.doi:10.1002/(SICI)1096-8628(19970502)70:1<67::AID-AJMG13>3.0.CO;2-V.PMID9129744.
Toriello HV, Mulliken JB (2007). "Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM).".American Journal of Medical Genetics 143A (24): 3009. doi:10.1002/ajmg.a.31971. PMID17963258
Mirzaa, GM.; Conway, RL.; Gripp, KW.; Lerman-Sagie, T.; Siegel, DH.; deVries, LS.; Lev, D.; Kramer, N. et al. (Feb 2012). "Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis". American Journal of Medical Genetics 158A (2): 269–91. doi:10.1002/ajmg.a.34402. PMID22228622
Rivière, JB.; Mirzaa, GM.; O'Roak, BJ.; Beddaoui, M.; Alcantara, D.; Conway, RL.; St-Onge, J.; Schwartzentruber, JA. et al. (2012). "De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes". Nat Genet 44 (8): 934–40. doi:10.1038/ng.2331. PMC 3408813. PMID22729224
Kurek, KC.; Luks, VL.; Ayturk, UM.; Alomari, AI.; Fishman, SJ.; Spencer, SA.; Mulliken, JB.; Bowen, ME. et al. (Jun 2012). "Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome". American Journal of Human Genetics 90 (6): 1108–15.doi:10.1016/j.ajhg.2012.05.006. PMC 3370283. PMID22658544
Lee, JH.; Huynh, M.; Silhavy, JL.; Kim, S.; Dixon-Salazar, T.; Heiberg, A.; Scott, E.; Bafna, V. et al. (2012). "De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly". Nat Genet 44 (8): 941–5. doi:10.1038/ng.2329. PMID22729223.
Lindhurst, MJ.; Parker, VE.; Payne, F.; Sapp, JC.; Rudge, S.; Harris, J.; Witkowski, AM.; Zhang, Q. et al. (2012). "Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA". Nat Genet 44 (8): 928–33. doi:10.1038/ng.2332.PMC 3461408. PMID22729222.
Franceschini P, Licata D, Di Cara G, Guala A, Franceschini D, Genitori L (2000)."Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?".American Journal of Medical Genetics 90 (4): 265–9. doi:10.1002/(SICI)1096-8628(20000214)90:4<265::AID-AJMG1>3.0.CO;2-S. PMID10710221.
Robertson SP, Gattas M, Rogers M, Adès LC (2000). "Macrocephaly--cutis marmorata telangiectatica congenita: report of five patients and a review of the literature.". Clin Dysmorphol 9 (1): 1–9. doi:10.1097/00019605-200009010-00001. PMID10649789.
Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA et al. (2007). "Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.". American Journal of Medical Genetics 143A (24): 2981–3008.doi:10.1002/ajmg.a.32040. PMID18000912
Yano S, Watanabe Y (2001). "Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.". American Journal of Medical Genetics 102 (2): 149–52. doi:10.1002/ajmg.1428. PMID11477607
Kuint, J.; Globus, O.; Ben Simon, GJ.; Greenberger, S. (2012). "Macrocephaly-capillary malformation presenting with fetal arrhythmia". Pediatr Dermatol 29 (3): 384–6.doi:10.1111/j.1525-1470.2011.01677.x. PMID22329570
Erener Ercan, T.; Oztunc, F.; Celkan, T.; Bor, M.; Kizilkilic, O.; Vural, M.; Perk, Y.; Islak, C.; Tuysuz, B. (Mar 2012). "Macrocephaly-Capillary Malformation Syndrome in a Newborn With Tetralogy of Fallot and Sagittal Sinus Thrombosis". J Child Neurol 28 (1): 115–9.doi:10.1177/0883073812439346. PMID22451530
Dueñas-Arias, JE.; Arámbula-Meraz, E.; Frías-Castro, LO.; Ramos-Payán, R.; Quibrera-Matienzo, JA.; Luque-Ortega, F.; Aguilar-Medina, EM. (Sep 2009). "Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature". Journal of Medical Case Reports 3 (1): 9215. doi:10.4076/1752-1947-3-9215.PMC 2827170. PMID20210980
