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22q11 chromosome abnormalities and the cleft service

โœ Scribed by N. Nugent; A. McGillivary; M.J. Earley

Book ID
119202165
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
424 KB
Volume
63
Category
Article
ISSN
1878-0539

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Deletion of chromosome 22q11 and pseudoh
Deletion of chromosome 22q11 and pseudohypoparathyroidism
โœ Craigen, William J.; Lindsay, Elizabeth A.; Bricker, J. Timothy; Hawkins, Edith ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 5 KB ๐Ÿ‘ 3 views

A newborn boy with complex congenital heart disease, unilateral renal agenesis, and hypocalcemia was found to have a submicroscopic deletion of 22q11.2 (DiGeorge anomaly). In evaluating the pathogenesis of the hypocalcemia, repeatedly elevated or normal levels of parathyroid hormone were found, cons