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MEN2 screening dilemmas in a family with a novel RET mutation in the MEN2 susceptibility region of the gene, a family history of Hirschsprung disease, and no family history of MEN2-related tumours

✍ Scribed by Virginia E. Clowes; Charles Shaw-Smith; Helen Simpson; Steve G. Ball; Carlo L. Acerini


Book ID
108703939
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
110 KB
Volume
68
Category
Article
ISSN
0300-0664

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Waardenburg syndrome (WS) comprises sensorineural hearing loss, hypopigmentation of skin and hair, and pigmentary disturbances of the irides. Four types of WS have been classified to date; in WS type IV (WS4), patients additionally have colonic aganglionosis (Hirschsprung disease, HSCR). Mutations i