Eckhard Korsch

TL;DR: The extended spectrum of the WS4 phenotype is relevant to the brain expression of SOX10 during human embryonic and fetal development, and the important role ofSOX10 in early development of both neural-crest-derived tissues, namely melanocytes, autonomic and enteric nervous systems, and glial cells of the central nervous system is emphasized.

TL;DR: LHX3 mutations are a rare cause of CPHD involving deficiencies for GH, prolactin, TSH, and LH/FSH in all patients, extending the known molecular defects and range of phenotypes found in LHX3-associated diseases.

TL;DR: Performing protein glycosylation studies and Western blot for the different COG subunits in patients with progressive microcephaly, growth retardation, hypotonia, adducted thumbs and cardiac defects, especially in association with skin anomalies or episodes of hyperthermia is suggested.

TL;DR: Studying the enzyme function in vitro helps to understand the phenotypical expression and disease severity of 11-hydroxylase deficiency, which is the basis for accurate genetic counseling, prenatal diagnosis, and treatment, and the combination of in vitro enzyme function and molecular modeling provides new insights in cytochrome P450 structural-functional relationships.

TL;DR: Candidate genes were examined to determine the precise aetiology of suspected dyshormonogenesis in CH, which is due to a defect in thyroid hormonogenesis.