Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. [electronic resource]
Producer: 20110627Description: 86-88 p. digitalISSN:- 1473-5717
- Adult
- Adult Children
- Aged
- Ectodermal Dysplasia -- diagnosis
- Facies
- Failure to Thrive -- diagnosis
- Female
- Heart Defects, Congenital -- diagnosis
- Heredity
- Humans
- Keratoderma, Palmoplantar -- diagnosis
- Lentigo -- congenital
- MAP Kinase Kinase 2 -- genetics
- Male
- Middle Aged
- Mothers
- Mutation, Missense
- Myopia -- congenital
- Pedigree
- Polyhydramnios -- diagnosis
- Pregnancy
- Pulmonary Valve Stenosis -- congenital
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Publication Type: Case Reports; Journal Article
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