Add to ORKGHypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation Case report Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC) in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3
We report on GATA3 analysis and the phenotypic spectrum in nine Japanese families with the HDR syndr...
Syndrome of (hypoparathyroidism, deafness and renal disease) HDS is a rare autosomal dominant syndro...
Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes hypoparathyro...
Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant d...
Abstract Autosomal dominant hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome are typ...
Background: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant diso...
Abstract HDR syndrome is a rare autosomal dominant disorder caused by mutations in the GATA3 gene an...
humans causes hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome (Bilous ...
Hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome (MIM 146255) is a rare...
Abstract Background Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome...
The hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome is an autosomal dominant disorder cau...
The hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome is an autosomal dominant disorder cau...
Haploinsufficiency of a region located distal to 10p14 designated HDR1, is responsible for hypoparat...
Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidi...
Chromosome 10p terminal deletions have been associated with a DiGeorge like phenotype. Haploinsuffic...
We report on GATA3 analysis and the phenotypic spectrum in nine Japanese families with the HDR syndr...
Syndrome of (hypoparathyroidism, deafness and renal disease) HDS is a rare autosomal dominant syndro...
Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes hypoparathyro...
Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant d...
Abstract Autosomal dominant hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome are typ...
Background: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant diso...
Abstract HDR syndrome is a rare autosomal dominant disorder caused by mutations in the GATA3 gene an...
humans causes hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome (Bilous ...
Hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome (MIM 146255) is a rare...
Abstract Background Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome...
The hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome is an autosomal dominant disorder cau...
The hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome is an autosomal dominant disorder cau...
Haploinsufficiency of a region located distal to 10p14 designated HDR1, is responsible for hypoparat...
Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidi...
Chromosome 10p terminal deletions have been associated with a DiGeorge like phenotype. Haploinsuffic...
We report on GATA3 analysis and the phenotypic spectrum in nine Japanese families with the HDR syndr...
Syndrome of (hypoparathyroidism, deafness and renal disease) HDS is a rare autosomal dominant syndro...
Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes hypoparathyro...