Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation

Clinical Dysmorphology

Volumn 20, Issue 2, 2011, Pages 86-88

  Linden, Helen C ^a   Price, Susan M ^a  

^a CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE KINASE 2;

ADULT; ARTICLE; CASE REPORT; DEVELOPMENTAL DISORDER; FEMALE; GENE MUTATION; HUMAN; HYDRAMNIOS; JOINT LAXITY; LEARNING DISORDER; LEOPARD SYNDROME; MALE; MYOPIA; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS;

ADULT; ADULT CHILDREN; AGED; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; FEMALE; HEART DEFECTS, CONGENITAL; HEREDITY; HUMANS; KERATODERMA, PALMOPLANTAR; LENTIGO; MALE; MAP KINASE KINASE 2; MIDDLE AGED; MOTHERS; MUTATION, MISSENSE; MYOPIA; PEDIGREE; POLYHYDRAMNIOS; PREGNANCY; PULMONARY VALVE STENOSIS;

EID: 79953037819     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32833ff29d     Document Type: Article

References (4)

1. Dentici ML, Sarkozy A, Pantaleoni F, Carta C, Lepri F, Ferese R, et al. (2009). Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. Eur J Hum Genet 17:733-740.
2. Narumi Y, Aoki Y, Niihori T, Neri G, Cave H, Verloes A, et al. (2007). Molecular and clinical characterisation of cardio-facio-cutaneous (CFC) syndrome. Am J Med Genet 143 A: 799.
3. Rauen K, Tidyman WE, Estep AL, Sampath S, Peltier HM, Bale SJ, et al. (2010). Molecular and functional analysis of a novel MEK2 mutation in cardio-faciocutaneous syndrome: transmission through four generations. Am J Med Genet 152 A: 807-814.
4. Tidyman WE, Rauen KA (2009). The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Devel 19:230-236.