Eight novel mutations were identified in the gene encoding L1CAM, a neural cell adhesion protein, in patients/families with Xlinked hydrocephalus (XHC) providing additional evidence for extreme allelic heterogeneity of the trait. The two nonsense mutations (Gln440Ter and Gln1042Ter) result most like
✦ LIBER ✦
Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus
✍ Scribed by Kanemura, Yonehiro; Okamoto, Nobuhiko; Sakamoto, Hiroaki; Shofuda, Tomoko; Kamiguchi, Hiroyuki; Yamasaki, Mami
- Book ID
- 125504058
- Publisher
- American Association of Neurological Surgeons
- Year
- 2006
- Tongue
- English
- Weight
- 679 KB
- Volume
- 105
- Category
- Article
- ISSN
- 1933-0707
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## Abstract X‐linked dominant Conradi‐Hunermann‐Happle syndrome (CDPX2; MIM 302960) is a rare chondrodysplasia punctata primarily affecting females. CDPX2 is presumed lethal in males, although a few affected males have been reported. CDPX2 is a cholesterol biosynthetic disorder due to 3‐β‐hydroxyst