Concepedia

ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita

Iman S. Abumansour, Hadia Hijazi, Anas Alazmi, Fatma Alzahrani, Fahad A. Bashiri, Hamdy H. Hassan, Mohammed Al‐Haddab, Fowzan S. Alkuraya

Human Genetics · 2015 · 20 citations · 7 references

DOI

Concepts

References

7

Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

Ghayda Mirzaa, Robert L. Conway, Karen W. Gripp et al. · American Journal of Medical Genetics Part A · 2012 · 238 citations · Full text

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Cutis Marmorata Telangiectatica Congenita: Clinical Findings in 85 Patients

Dan Ben Amitai, Susanna Fichman, Paul Merlob et al. · Pediatric Dermatology · 2000 · 147 citations

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Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis

Antonio Torrelo, Rudolf Happle · British Journal of Dermatology · 2003 · 90 citations

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Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata)

Antonio Torrelo, Rudolf Happle · Journal of the European Academy of Dermatology and Venereology · 2006 · 46 citations

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Genome-Wide Association Analysis of Ischemic Stroke in Young Adults

Yu-Ching Cheng, Jeffrey R. O’Connell, John W. Cole et al. · G3 Genes Genomes Genetics · 2011 · 37 citations · Full text

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