Thyroid Hypoplasia
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
A new heterozygous nucleotide substitution was detected in the PAX8 DNA-binding motif (c.397C/T, R133W) in the proband, affected by congenital hypothyroidism with thyroid hypoplasia, in his older sister, displaying a subclinical hypothyroidism associated with thyroid hypoplasia and thyroid nodules, in his father, affected by hypothyroidism with thyroid hypoplasia and thyroid nodules, and his first cousin as well, who revealed only a subclinical hypothyroidism.
|
25146893 |
2014 |
Thyroid Hypoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A new heterozygous nucleotide substitution was detected in the PAX8 DNA-binding motif (c.397C/T, R133W) in the proband, affected by congenital hypothyroidism with thyroid hypoplasia, in his older sister, displaying a subclinical hypothyroidism associated with thyroid hypoplasia and thyroid nodules, in his father, affected by hypothyroidism with thyroid hypoplasia and thyroid nodules, and his first cousin as well, who revealed only a subclinical hypothyroidism.
|
25146893 |
2014 |
Thyroid Hypoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome.
|
24499175 |
2014 |
Thyroid Hypoplasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
The PAX8 gene was sequenced in a mother and child both suffering from congenital hypothyroidism (CH) because of thyroid hypoplasia.
|
20718765 |
2010 |
Thyroid Hypoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel small duplication of PAX8 (p.K80_A84dup) in two half-sibling patients with thyroid hypoplasia.
|
20157192 |
2010 |
Thyroid Hypoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this patient we found no evidence for a mutation of the PAX8 gene known to cause an ectopic and/or hypoplastic thyroid.
|
17433800 |
2007 |
Thyroid Hypoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Absence of the Pax8 gene results in congenital hypothyroidism in mice, and mutations of the Pax8 gene have been associated with thyroid hypoplasia in humans.
|
17082261 |
2007 |
Thyroid Hypoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SSCP analysis and direct sequencing of exon 3 of a female patient with a hypoplastic thyroid gland revealed two heterozygous mutations in Pax8 resulting in a transition of T to C (codon 34) and G to A (codon 35), replacing isoleucine by threonine and valine by isoleucine.
|
16763387 |
2006 |
Thyroid Hypoplasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Although commonly regarded as sporadic disease, nonsyndromic thyroid hypoplasia has, in rare cases, been attributed to inherited defects in PAX8 and the TSHR gene.
|
16189712 |
2005 |
Thyroid Hypoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that loss of function mutations of the PAX8 gene may cause congenital hypothyroidism in the absence of thyroid hypoplasia.
|
15356023 |
2004 |
Thyroid Hypoplasia
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Four girls with sporadic congenital hypothyroidism and hypoplastic thyroid glands were analyzed for mutations in PAX8 and TTF2 (FKHL15).
|
11502839 |
2001 |
Thyroid Hypoplasia
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Here, we describe a novel mutation of PAX8 causing autosomal dominant transmission of CH with thyroid hypoplasia.
|
11232006 |
2001 |
Thyroid Hypoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Four girls with sporadic congenital hypothyroidism and hypoplastic thyroid glands were analyzed for mutations in PAX8 and TTF2 (FKHL15).
|
11502839 |
2001 |
Thyroid Hypoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe a novel mutation of PAX8 causing autosomal dominant transmission of CH with thyroid hypoplasia.
|
11232006 |
2001 |
Thyroid Hypoplasia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.
|
9590296 |
1998 |
Thyroid Hypoplasia
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|