Add to ORKGThe roles of two transcription factors, GATA3 and PARAFIBROMIN, that are involved in parathyroid function have been studied. Thus, loss of function mutations of the dual zinc finger transcription factor GATA3 result in hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome; whilst loss of function mutations of PARAFIBROMIN which is a nuclear protein with a likely role in the RNA polymerase complex, lead to the hyperparathyroidism-jaw tumour (HPT-JT) syndrome.EThOS - Electronic Theses Online ServiceGBUnited Kingdo
The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disord...
Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes hypoparathyro...
Hyperparathyroidism is associated with hypercalcemia and the excess of parathyroid hormone secretion...
Parathyroid developmental anomalies, which result in hypoparathyroidism, are common and may occur in...
Parathyroid developmental anomalies, which result in hypoparathyroidism, are common and may occur in...
The hyperparathyroidsim-jaw tumour (HPT-JT) syndrome is an autosomal dominant disorder characterised...
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...
OBJECTIVE: To investigate two patients with the hyperparathyroidism-jaw tumour (HPT-JT) syndrome and...
We report here the identification of a gene associated with the hyperparathyroidism-jaw tumor (HPT-J...
The hyperparathyroidism-jaw tumor (HPT-JT) syndrome is an autosomal dominant disorder characterized ...
Heterozygous mutations of GATA3, which encodes a dual zinc-finger transcription factor, cause hypopa...
We report here the identification of a gene associated with the hyperparathyroidism-jaw tumor (HPT-J...
The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disord...
Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes hypoparathyro...
Hyperparathyroidism is associated with hypercalcemia and the excess of parathyroid hormone secretion...
Parathyroid developmental anomalies, which result in hypoparathyroidism, are common and may occur in...
Parathyroid developmental anomalies, which result in hypoparathyroidism, are common and may occur in...
The hyperparathyroidsim-jaw tumour (HPT-JT) syndrome is an autosomal dominant disorder characterised...
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...
OBJECTIVE: To investigate two patients with the hyperparathyroidism-jaw tumour (HPT-JT) syndrome and...
We report here the identification of a gene associated with the hyperparathyroidism-jaw tumor (HPT-J...
The hyperparathyroidism-jaw tumor (HPT-JT) syndrome is an autosomal dominant disorder characterized ...
Heterozygous mutations of GATA3, which encodes a dual zinc-finger transcription factor, cause hypopa...
We report here the identification of a gene associated with the hyperparathyroidism-jaw tumor (HPT-J...
The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disord...
Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes hypoparathyro...
Hyperparathyroidism is associated with hypercalcemia and the excess of parathyroid hormone secretion...