Bamforth–Lazarus syndrome is a genetic condition that results in
thyroid dysgenesis
Thyroid dysgenesis is a cause of congenital hypothyroidism where the thyroid is missing, ectopic, or severely underdeveloped. It should not be confused with iodine deficiency, or with other forms of congenital hypothyroidism, such as thyroid dys ...
.
It is due to
recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
mutations in forkhead/winged-helix domain transcription factor (''
FKLH15'' or ''
TTF2'').
It is associated with ''
FOXE1''.
References
External links
{{DEFAULTSORT:Bamforth-Lazarus syndrome
Genetic diseases and disorders
Syndromes affecting the endocrine system