Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia

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Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia2016-11-27T14:55:58+00:00

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia  

GENETICS, HAEMATOLOGY, PAEDIATRICS

A syndrome (OMIM:613563) characterised by a Noonan-like phenotype with variable clinical features–e.g., facial dysmorphia—triangular face with hypertelorism, large low-set ears, ptosis, and flat nasal bridge, short neck, developmental delay, hyperextensible joints and chest abnormalities with widely spaced nipples. It may be accompanied by cardiac defects and an increased risk of cancer, especially juvenile myelomonocytic leukaemia.

Molecular pathology Defects of CBL, a proto-oncogene that encodes a RING finger E3 ubiquitin ligase required for targeting substrates for proteosomal degradation, cause Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia. 

Synonyms CBL syndrome, CBL mutation-associated disorder  

References http://www.uniprot.org/uniprot/P22681

http://www.omim.org/entry/613563

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