Recessive mutations in the SLC26A4 gene are responsible for nonsyndromic enlarged vestibular aqueduct (EVA) and Pendred syndrome. However, in some affected families, only 1 or 0 mutated allele
Objective. To characterize initial presentation and clinical course of patients with hepatocyte nuclear factor (HNF) 4A- and HNF1B-MODY in a multinational registry. Design, setting and participants.
A, complete heterochromia iridis; B, partial or segmental heterochromia iridis; C, brilliant blue iris; Skin, numerous brown freckles on the face, trunk, and limb extremities; W, W index; HL, hearing
