Congenital hypotrichosis and milia: Report of a large family suggesting X-linked dominant inheritance

Inheritance of skewed X chromosome inact

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