✦ LIBER ✦

A new autosomal dominant craniofacial deafness syndrome

✍ Scribed by S. Kassutto; Z. Kassutto; T. Ben-Ami; R. M. Goodman

Book ID: 115089633
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 412 KB
Volume: 32
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1987.tb03301.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Familial multiple pigmented naevi and se

Familial multiple pigmented naevi and sensorineural deafness. A new autosomal dominant syndrome?

✍ Andrea Peserico; Alessandro Martini; Romano Tenconi 📂 Article 📅 1981 🏛 Elsevier Science 🌐 English ⚖ 923 KB

A new autosomal dominant acrofacial dyso

A new autosomal dominant acrofacial dysostosis syndrome

✍ Reynolds, James F. ;Webb, Mary Jane ;Opitz, John M. ;Gorlin, Robert J. 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 472 KB 👁 2 views

We report on a family in which a previously undescribed acrofacial dysostosis syndrome is segregating as an autosomal dominant trait. Craniofacial manifestations are those of mild mandibulofacial dysostosis and are quite constant among affected relatives. The acral abnormalities are quite variable,

New autosomal-dominant partial epilepsy

New autosomal-dominant partial epilepsy syndrome

✍ Ingrid E. Scheffer; Ian J. Hopkins; A.Simon Harvey; Samuel F. Berkovic 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 123 KB

Gene localization in a Chinese family wi

Gene localization in a Chinese family with autosomal dominant non-syndromic deafness

✍ Jiang, Lu; Liu, Yalan; Feng, Yong; Hu, Zhengmao; Mei, Lingyun; Long, Liwei; Chen 📂 Article 📅 2011 🏛 Informa plc 🌐 English ⚖ 261 KB

New autosomal dominant syndrome resembli

New autosomal dominant syndrome resembling craniofrontonasal dysplasia

✍ Teebi, Ahmad S. ;Reynolds, James F. 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 623 KB

New autosomal dominant radial ray hypopl

New autosomal dominant radial ray hypoplasia syndrome

✍ Goldblatt, J. ;Viljoen, D. ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 475 KB