Hum Mol Genet
May 2010
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 hypoparathyroidism. We ascertained 18 affected individuals from 12 families with autosomal recessive hypoparathyroidism and have investigated them for GCMB abnormalities.
View Article and Find Full Text PDFAlthough body dysmorphic disorder is a psychiatric disorder in its own right, rarely it can be a variant of a variety of psychiatric syndromes like schizophrenia, mood disorders, OCD etc. Following is an unusual case report of a female patient who presented with body dysmorphic disorder later diagnosed as having schizophrenia.
View Article and Find Full Text PDFPaediatric inpatient utilisation in a district general hospital was studied for 20 general practices covering a population of 26,433 children. The factors influencing the rate and route of admission (general practitioner (GP) or accident and emergency department) were analysed for 894 emergency non-traumatic admissions over a 12 month period. The overall rate of acute, nontraumatic admission was 33.
View Article and Find Full Text PDFOrofacial clefting (OFC) is genetically complex in that no single gene defect is responsible for all forms. We have identified a family who exhibit autosomal dominant orofacial clefting together with some features of ectodermal dysplasia. In this family there is concordance between these features and an apparently balanced translocation t(6;9)(p23;q22.
View Article and Find Full Text PDFObjective: To assess quality of storage of vaccines in the community.
Design: Questionnaire survey of general practices and child health clinics, and monitoring of storage temperatures of selected refrigerators.
Setting: Central Manchester and Bradford health districts.
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