Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
158A:
Mirzaa GM, Conway RL, Gripp KW, et al. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A 2012;158A(2):269-91.
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Riviere JB, Mirzaa GM, O'Roak BJ, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012;44(8):934-40.
Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review
130A:
Lapunzina P, Gairi A, Delicado A, et al. Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review. Am J Med Genet A 2004;130A(1):45-51.
Macrocephaly-capillary malformation: analysis of 13 patients and review of the diagnostic criteria
152A:.
Martinez-Glez V, Romanelli V, Mori MA, et al. Macrocephaly-capillary malformation: analysis of 13 patients and review of the diagnostic criteria. Am J Med Genet A 2010;152A(12):3101.
Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations
126A:
Giuliano F, David A, Edery P, et al. Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations. Am J Med Genet A 2004;126A(1):99-103.
Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome
Yano S, Watanabe Y. Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome. Am J Med Genet 2001;102(2):149-52.
Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature
Duenas-Arias JE, Arambula-Meraz E, Frias-Castro LO, et al. Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature. J Med Case Reports 2009;3(1):9215.