Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding.
Chenouard, Alexis; Isidor, Bertrand; Allain-Launay, Emma; Moreau, Anne; Le Bideau, Marc; Roussey, Gwenaelle.
Eur J Pediatr
; 172(1): 107-10, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23052618
Co-occurrence of 22q11 deletion syndrome and HDR syndrome.
HDR syndrome in a Japanese girl with biliary atresia: a case report.
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.
The Syndrome of Familial Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia.
Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene.
Hearing loss in vitiligo: current concepts and review.
HDR syndrome: a follow-up genotype-phenotype analysis of a de novo missense Thr272Ile mutation in exon 4 of GATA3.
[Clinical analysis of 54 patients with non-syndromic enlarged vestibular aqueduct].
[Cogan syndrome with audiovestibular disfunction: 2 cases report].
Vliianie tsentral'nykh slukhovykh rasstroistv na razborchivost' rechi pri sensonevral'noi tugoukhosti.