- A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidismDaniel Doyle
Division of Endocrinology, Nemours Alfred I duPont Hospital for Children, P O Box 269, Wilmington, DE 19803, USA
J Pediatr Endocrinol Metab 25:741-6. 2012..To investigate the GCM2 gene in three siblings with congenital hypoparathyroidism and perform functional analysis...
- Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1Daniel A Doyle
Division of Endocrinology, Department of Research, Nemours Children s Clinic Wilmington, Alfred I duPont Hospital for Children, Wilmington, Delaware 19899, USA
J Pediatr 145:190-3. 2004..To study the NKX2-1 gene in two half-siblings with elevated thyroid-stimulating hormone (TSH) on state screen, prolonged neonatal respiratory distress despite term gestations, and persistent ataxia, dysarthria, and developmental delay...
- Growth hormone treatment and pseudotumor cerebri: coincidence or close relationship?Grafton D Reeves
Division of Endocrinology, Alfred I duPont Hospital for Children, Wilmington, DE 19899, USA
J Pediatr Endocrinol Metab 15:723-30. 2002..Several areas are addressed, including plausibility, probability, clinical and laboratory presentations, management, clinical outcome, present state of knowledge, and future recommendations...