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Renal hypodysplasia and unilateral ovarian agenesis in the Penta-X syndrome

✍ Scribed by Toussi, Tahmouresse ;Halal, Fahed ;Lesage, Robert ;Delorme, Fernand ;Bergeron, André ;Opitz, John M.


Book ID
102698976
Publisher
John Wiley and Sons
Year
1980
Tongue
English
Weight
568 KB
Volume
6
Category
Article
ISSN
0148-7299

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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