Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness
β Scribed by Michael S. Hildebrand; Michelle G. de Silva; Tiong Yang Tan; Elizabeth Rose; Carla Nishimura; Tanya Tolmachova; Joanne M. Hulett; Susan M. White; Jeremy Silver; Melanie Bahlo; Richard J.H. Smith; Hans-Henrik M. Dahl
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 369 KB
- Volume
- 143A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
We report on a mother and two sons with a syndrome of microcephaly, short stature, a distinctive face, broad thumbs and great toes
## Abstract Tissues of the auditory, ocular and reproductive systems have some similarities in their protein families and structures. Consequently, syndromes comprising these systems are described. Hearing loss alone is a component of more than 400 known syndromes and is a common nonsyndromic conge
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
We describe a new syndrome of distal limb anomalies and pigmentary skin defects in 10 females of a large, four-generation pedigree. The family was ascertained through a 4-month-old infant girl with multiple anomalies, including hypertelorism, iris colobomas, low-set ears, midface hypoplasia, punched