Pseudohypoparathyroidism: phenotypic spectrum in kindred
نویسندگان
چکیده
منابع مشابه
Pseudohypoparathyroidism: phenotypic spectrum in kindred
Pseudohypoparathyroidism (PHP) encompasses a heterogeneous group of disorders due to an inactivating mutation in the GNAS gene which encodes the a subunit of Gs proteins (Gsa). Gsa plays a crucial role in intracellular signal transduction of peptides, hormones and neurotransmitter receptors in multiple tissues. Key features of PHP include Albright Hereditary Osteodystrophy (AHO) and biochemical...
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Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with a great degree of phenotypic variability. Given the presence of two gene loci underlying this disorder, locus heterogeneity may account for some of the variability. However, significant within family variation suggests that different genes do not explain the majority of this variation. The purpose of this research is to ide...
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Pseudohypoparathyroidism is a complex disorder of renal resistance to parathyroid hormone the mechanism of which is unclear. It is often associated with skeletal abnormalities and there may also be other hormonal defects. This is an extensive endocrinological investigation of five of six affected members in two generations of one family. The phenotypic variability of the syndrome is explored: f...
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ژورنال
عنوان ژورنال: International Journal of Pediatric Endocrinology
سال: 2015
ISSN: 1687-9856
DOI: 10.1186/1687-9856-2015-s1-p84