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Article

ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation

20 Jul 2004

Abstract excerpt

A 3-year-old girl with phenotypic and cytogenetic manifestations of the ICF syndrome and DNA hypomethylation but without DNMT3B gene mutation is described. At age 3 months, she had an apneic spell that left her with spastic paraplegia and severe mental retardation. At age 8 months, she suffered meningococcal meningitis and sepsis. When seen by us at age 3 years with virilization, she had a cleft plate,...

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PMID: 15326630
DOI: 10.1002/ajmg.a.30135

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