Noonan syndrome-like disorder with loose anagen hair

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Noonan syndrome-like disorder with loose anagen hair2016-11-27T14:23:07+00:00

Noonan syndrome-like disorder with loose anagen hair

GENETICS

Definition An autosomal dominant condition (OMIM:607721) characterised by Noonan dysmorphic features–e.g., macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, accompanied by pluckable, sparse, thin and slow-growing hair

Molecular pathology Defects of SHOC2, which encodes a protein implicated in protein-protein interactions and may act as a scaffold, linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signalling cascade, .cause Noonan syndrome-like disorder with loose anagen hair. 

Synonym Tosti syndrome 

References http://www.uniprot.org/uniprot/Q9UQ13

http://www.omim.org/entry/607721

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