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A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome

✍ Scribed by Milena Cau; Maria Addis; Rita Congiu; Cristiana Meloni; Antonio Cao; Simona Santaniello; Mario Loi; Francesco Emma; Orsetta Zuffardi; Roberto Ciccone; Gabriella Sole; Maria Antonietta Melis


Book ID
106252042
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
255 KB
Volume
51
Category
Article
ISSN
1435-232X

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Inheritance of skewed X chromosome inact
✍ Ørstavik, Karen Helene; Elise Ørstavik, Ragnhild; Eiklid, Kristin; Tranebjærg, L 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB 👁 3 views

A new X-linked recessive deafness syndrome was recently reported and mapped to Xq22 (Mohr-Tranebjaerg syndrome). In addition to deafness, the patients had visual impairment, dystonia, fractures, and mental deterioration. The female carriers did not have any significant manifestations of the syndrome