Cleft lip and/or cleft palate (CL/P) collectively are well known as being amongst the most
common birth defects but we still have difficulty explaining why the majority of cases occur …

Background: Congenital hypothyroidism (CH) is a frequent disease occurring with an
incidence of about 1/2500 newborns/year. In 80–85% of the cases CH is caused by …

De novo disruptions of the neural transcription factor FOXP1 are a recently discovered, rare
cause of sporadic intellectual disability (ID). We report three new cases of FOXP1-related …

Objectives To determine the prevalence of permanent and transient congenital
hypothyroidism (CH) in Isfahan, Iran. Methods In 256 primarily diagnosed CH patients …

Abstract Objective Mutations in NKX2. 1, NKX2. 5, FOXE1 and PAX8 genes, encoding for
transcription factors involved in the development of the thyroid gland, have been identified in …

It has been argued that the limited genetic diversity and reduced allelic heterogeneity
observed in isolated founder populations facilitates discovery of loci contributing to both …

Zebrafish is a model organism that affords experimental advantages toward investigating the
normal function of genes associated with congenital birth defects. Here we summarize …

Context Foxe1 is a key thyroid developmental transcription factor. Germline deletion results
in athyreosis and congenital hypothyroidism. Some data suggest an ongoing role for …

Introduction: Mutations in the FOXE1 gene are implicated in cleft palate and thyroid
dysgenesis in humans. Methods: To investigate whether zebrafish could provide meaningful …

The Forkhead box (Fox) transcription factors play diverse roles in differentiation,
development, hormone responsiveness, and aging. A pioneer activity of the Forkhead …