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X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation

✍ Scribed by Daza-Cajigal, V.; Martínez-Pomar, N.; Garcia-Alonso, A.; Heine-Suñer, D.; Torres, S.; Vega, A.K.; Molina, I.J.; Matamoros, N.

Book ID
123566413
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
634 KB
Volume
51
Category
Article
ISSN
1079-9796

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Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome
✍ 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