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Identical twins with an autosomal recessive form of spondylocostal dysostosis

✍ Scribed by M. Satar; M. N. Kozanoḡlu; L. Atilla


Book ID
115090354
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
349 KB
Volume
41
Category
Article
ISSN
0009-9163

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## Abstract Most patients with autosomal dominant pseudohypoparathyroidism type Ib (AD‐PHP‐Ib) carry maternally inherited microdeletions upstream of __GNAS__ that are associated with loss of methylation restricted to __GNAS__ exon A/B. Only few AD‐PHP‐Ib patients carry microdeletions within __GNAS_