Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia [2]

American Journal of Medical Genetics

Volumn 139 A, Issue 1, 2005, Pages 48-49

  Honkaniemi, Jari ^a,b   Kalkkila, Juha Pekka ^a   Koivisto, Pasi ^a   Kähärä, Veikko ^a   Latvala, Terho ^a   Simola, Kalle ^a  

^a TAMPERE UNIVERSITY HOSPITAL   (Finland)

^b TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; BLADDER DYSFUNCTION; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; FOOT RADIOGRAPHY; GENE; GENE MUTATION; GJA1 GENE; HAND RADIOGRAPHY; HUMAN; LETTER; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; OCULODENTODIGITAL SYNDROME; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SPASTIC PARESIS; URINE INCONTINENCE;

ABNORMALITIES, MULTIPLE; CONNEXIN 43; EYE ABNORMALITIES; FEMALE; FINGERS; HUMANS; MIDDLE AGED; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SYNDACTYLY; SYNDROME; TOES; TOOTH ABNORMALITIES;

EID: 27444446170     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30925     Document Type: Letter

References (7)

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2. Kjaer KW, Hansen L, Eiberg H, Leicht P, Opitz JM, Tommerup N. 2004. Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. Am J Med Genet 127A:152-157.
3. Loddenkemper T, Grote K, Evers S, Oelerich M, Stogbauer F. 2002. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol 249:584-595.
4. Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. 2003. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 72:408-418.
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6. Richardson R, Donnai D, Meire F, Dixon MJ. 2004. Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. J Med Genet 41:60-67.
7. Vitiello C, D'Adamo P, Gentile F, Vingolo EM, Gasparini P, Banfi S. 2005. A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly. Am J Med Genet A 133:58-60.