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
The association between pulmonary involvement and microscopic polyangiitis (MPA) has been increasingly recognized in recent years. Whether interstitial lung disease (ILD) and bronchiectasis (BE) are d
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
Introduction: Autosomal dominant pathogenic variations in the CSNK2A1 gene cause Okur-Chung neurodevelopmental syndrome (OCNDS). Methods: The proband and her parents were examined thoroughly and obser
