𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1

✍ Scribed by Xiangming Guo; Huangxuan Shen; Xueshan Xiao; Qilin Dai; Shiqiang Li; Xiaoyun Jia; J. Fielding Hejtmancik; Qingjiong Zhang


Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
222 KB
Volume
51
Category
Article
ISSN
1435-232X

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Homozygosity mapping in a family with mi
✍ Horn, Denise; Krebsov�, Alice; Kunze, J�rgen; Reis, Andr� 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 67 KB 👁 2 views

A syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent. Hypotonia, chorioretinal dystrophy, and myopia were also identified. The severity of the condition var