Buy Me a Coffee at ko-fi.com

Hypoparathyroidism-deafness-renal disease syndrome

characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material basis in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14

Pronunciation
/ˌhaɪpoʊˌpɛrəˈθaɪrɔɪˌdɪzəm - ˈdɛfnəs - ˈrinl dəˈziz ˈsɪnˌdroʊm/
/ˌhʌɪpəʊˌparəˈθʌɪrɔɪdɪzəm - ˈdɛfnəs - ˈriːnəl dɪˈziːz ˈsɪndrəʊm/