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ea0003oc3 | Genetics: New Insights into Endocrine Disease | BES2002

A molecular deletional-insertion involving chromosomes Xq27 and 2p25 causes X-linked recessive hypoparathyroidism

Bowl M , Nesbit M , Harding B , Levy E , Schlessinger D , Whyte M , Thakker R

X-linked recessive hypoparathyroidism (XLHPT), due to congenital parathyroid agenesis, has been reported in two related kindreds from Missouri, USA. Affected individuals, who are males, suffer from epilepsy due to hypocalcaemia during infancy, whilst the females are normocalcaemic. Studies have mapped XLHPT to chromosome Xq27 and defined a 1.5 Mbp interval flanked centromerically by Factor IX and telomerically by DXS984. DNA sequence analysis of 4 candidate genes (proto-dbl, A...

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ea0003np1 | Novartis Award Posters | BES2002

A molecular deletional-insertion involving chromosomes Xq27 and 2p25 causes X-linked recessive hypoparathyroidism

Bowl M , Nesbit M , Harding B , Levy E , Schlessinger D , Whyte M , Thakker R

(This poster is based on OC3)...

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Endocrine Abstracts

A molecular deletional-insertion involving chromosomes Xq27 and 2p25 causes X-linked recessive hypoparathyroidism

A molecular deletional-insertion involving chromosomes Xq27 and 2p25 causes X-linked recessive hypoparathyroidism

BiosciAbstracts