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Autosomal recessive inheritance of atrichia congenita

✍ Scribed by J. M. Cantiü; J. Sáchez-Corona; A. González-Mendoza; R. Martínez Y. Martínez; D. Gmcía-Cruz


Book ID
119838972
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
274 KB
Volume
17
Category
Article
ISSN
0009-9163

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Dyskeratosis congenita: An autosomal rec
✍ Elliott, Alison M.; Graham, Gail E.; Bernstein, Mark; Mazer, Bruce; Teebi, Ahmad 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 2 views

We describe a woman with dyskeratosis congenita (DKC), microcephaly, and a purple discoloration of the tongue. The latter findings are not commonly described in males with DKC, have been reported in another female patient with this condition, and may represent the phenotype of an autosomal recessive