Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Neurofibromatose-Noonan-Syndrom

Neurofibromatose Typ 1 mit Noonan-Syndrom ist eine autosomal dominante Erkrankung durch NF1-Mutationen ausgelöst. Es ist eine Variante der Neurofibromatose, die zusätzlich zu den Cafe-au-lait-Flecken und den Neurofibromen körperliche Zeichen des Noonan-Syndroms aufweist.

Symptome

Cafe-au-lait-Flecke
Bei diesem Typ der Neurofibromatose sind die Cafe-au-lait-Flecken zusätzlich mit körperlichen Fehlbildungen wie beim Noonan-Syndrom assoziiert.

Gliederung

Neurofibromatose
Legius-Syndrom
Neurofibromatose 1
Neurofibromatose-Noonan-Syndrom
NF1
Spinale Form der Neurofibromatose
Watson-Syndrome

Referenzen:

1.

Allanson JE et. al. (1985) Noonan phenotype associated with neurofibromatosis.

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2.

Colley A et. al. (1996) Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis.

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3.

Baralle D et. al. (2003) Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).

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4.

Bertola DR et. al. (2005) Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

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5.

De Luca A et. al. (2005) NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

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6.

Stevenson DA et. al. (2006) Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

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7.

Thiel C et. al. (2009) Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.

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8.

Nyström AM et. al. (2009) Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

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9.

Quattrin T et. al. (1987) Vertical transmission of the neurofibromatosis/Noonan syndrome.

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10.

None (1987) Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis.

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11.

Abuelo DN et. al. (1988) Neurofibromatosis with fully expressed Noonan syndrome.

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12.

Opitz JM et. al. (1985) The neurofibromatosis-Noonan syndrome.

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13.

Jamieson CR et. al. (1994) Mapping a gene for Noonan syndrome to the long arm of chromosome 12.

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14.

Bahuau M et. al. (1996) Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.

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15.

Bahuau M et. al. (1998) Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.

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16.

Klopfenstein KJ et. al. () Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases.

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