Retinal involvement in two unrelated patients with Myhre syndrome

European Journal of Medical Genetics

Volumn 55, Issue 10, 2012, Pages 541-547

  Al Ageeli, Essam ^a,b   Mignot, Cyril ^a,b,c   Afenjar, Alexandra ^a,b,c   Whalen, Sandra ^a,b   Dorison, Nathalie ^c   Mayer, Michèle ^c   Esteva, Blandine ^c   Dubern, Béatrice ^c   Momtchilova, Marta ^c   Le Gargasson, Jean François ^d   Bursztyn, Joseph ^e   Héron, Delphine ^a,b  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b Intellectuelles de Causes Rares   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d HÔPITAL LARIBOISIÈRE   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Macular degeneration; Mental retardation; MS; Myhre syndrome; OFC; Retinitis pigmentosa; RP

Indexed keywords

ADOLESCENT; ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; ELECTRORETINOGRAM; EYE EXAMINATION; FEMALE; GENE; GENE MUTATION; GENETIC DISORDER; HUMAN; HYPERMETROPIA; INFANT; MALE; MYHRE RUVALCABA SYNDROME; MYOPIA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; RETINA MACULOPATHY; RETINITIS PIGMENTOSA; SCHOOL CHILD; SMAD4 GENE;

ADULT; CHILD; CRYPTORCHIDISM; FACIES; FEMALE; GROWTH DISORDERS; HAND DEFORMITIES, CONGENITAL; HUMANS; HYPERTROPHY; INTELLECTUAL DISABILITY; JOINT DISEASES; MACULA LUTEA; MALE; MUTATION, MISSENSE; RETINITIS PIGMENTOSA; SMAD4 PROTEIN;

EID: 84866344555     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.05.006     Document Type: Article

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