Birgit Eberle
YOU?
Author Swipe
View article: Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism
Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism Open
Congenital primary hypothyroidism (CH; OMIM 218700) is characterized by an impaired thyroid development, or dyshormonogenesis, and can lead to intellectual disability and growth retardation if untreated. Most of the children with congenita…
View article: Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes
Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes Open
Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and co…
View article: Evidence that non-syndromic familial tall stature has an oligogenic origin including ciliary genes
Evidence that non-syndromic familial tall stature has an oligogenic origin including ciliary genes Open
Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and co…
View article: Supplementary Material for: Identification of <b><i>Transient Receptor Potential Channel 4-Associated Protein</i></b> as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism
Supplementary Material for: Identification of <b><i>Transient Receptor Potential Channel 4-Associated Protein</i></b> as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism Open
Background: Congenital primary hypothyroidism (CH) is the most common endocrine disorder in neonates. Methods: To identify novel genes, we performed whole exome sequencing (WES) in 6 patients with CH due to thyroid dysgenesis (TD). The pot…