Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Noonan syndrome 6

Noonan syndrome 6 is an autosomal dominant disorder caused by mutations of the NRAS gene.

Systematic

Neurofibromatosis
Familial spinal neurofibromatosis
Legius syndrome
Neurofibromatosis 1
Neurofibromatosis-Noonan syndrome
Noonan syndrome 6
TRHR
Watson syndrome

References:

1.

De Filippi P et. al. (2009) Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia.

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2.

Cirstea IC et. al. (2010) A restricted spectrum of NRAS mutations causes Noonan syndrome.

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Update: Sept. 26, 2018