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Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformations. Studies in patients with 10p deletions have defined two non-overlapping regions that contribute to this complex phenotype. These are the DiGeorge critical region II (refs 1, 2), which… (More)
A case of epilepsy precipitated by bathing is described and previously reported cases are reviewed. The prognosis for this rare form of reflex epilepsy seems to be good, in that the seizures resolve with age and neurodevelopment remains normal.
In 1997 a review article on bisphosphonates in this journal identified 24 published articles relating to children at that time. 1 Since then there has been a considerable increase in their use in clinical paediatric practice and research with there being nearly a further one hundred articles published at the time of writing. T he purpose of this review is… (More)
This mini review summarizes papers presented in a Joint Symposium between the Bone, Growth Plate and Turner Syndrome Working Groups of the European Society for Paediatric Endocrinology (ESPE) that was held on September 9, 2009, in New York.The program had been composed to give an update on hormones and genes of importance in bone physiology and their… (More)
GCMB is a member of the small transcription factor family GCM (glial cells missing), which are important regulators of development, present in vertebrates and some invertebrates. In man, GCMB encodes a 506 amino acid parathyroid gland-specific protein, mutations of which have been reported to cause both autosomal dominant and autosomal recessive… (More)