The “megalencephaly-capillary malformation” (MCAP) syndrome: The nomenclature of a highly recognizable multiple congenital anomaly syndrome
Author:
Affiliation:
1. Seattle Children's Research Institute; Center for Integrative Brain Research; Seattle, Washington
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35940/fullpdf
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2. Neuroimaging findings in macrocephaly-capillary malformation: A longitudinal study of 17 patients;Conway;Am J Med Genet Part A,2007
3. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis;Mirzaa;Am J Med Genet Part A,2012
4. Macrocephaly-cutis marmorata telangiectatica congenita syndrome: A distinct disorder with developmental delay and connective tissue abnormality;Moore;Am J Med Genet,1997
5. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes;Rivière;Nat Genet,2012
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