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Pathology Single Gene Disorders fa94d128

All of the following are seen in RASopathies except:-

A
Hair abnormalities
B
Craniofacial abnormalities
C
Keratosis pilaris
D
Desquamation of skin
High-Yield Explanation
RAS opathies:- Group of medical genetic syndrome caused by germ line mutation in genes that encode components or regulator of RAS or MAP kinase pathway: Clinical features:- Distinct Facial features Developmental delays Cardiac defect Growth delays Neurological issues GI difficulties Examples Noonan Syndrome Neurofibromatosis Type I Costello syndrome Cardia- facio cutaneous syndrome. Legius syndrome =Skin desquamation is not seen in RAS Opathies.

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