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Familial Kallmann syndrome with unilateral renal aplasia

โœ Scribed by J. D. Wegenke; D. T. Uehling; J. B. Wear Jr; E. S. Gordon; J. G. Bargman; J. S. R. Deacon; J. P. R. Herrma; J. M. Opitz

Book ID
119838235
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
997 KB
Volume
7
Category
Article
ISSN
0009-9163

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X-linked Kallmann syndrome and renal age
X-linked Kallmann syndrome and renal agenesis occurring together and independently in a large Australian family
โœ Colquhoun-Kerr, James S.; Gu, Wen-Xia; Jameson, J. Larry; Withers, Stephen; Bode ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 34 KB ๐Ÿ‘ 2 views

Males with X-linked Kallmann syndrome (XLKS) may have renal agenesis. We studied a large kindred with a history of eight males affected by XLKS born in five generations. Their XLKS was shown to be due to an intragenic mutation of the KAL-1 gene. We also documented three male neonatal deaths due to b