The carbohydrate-deficient glycoprotein syndromes are a group of recently described autosomal recessive, metabolic defects affecting multiple systems. The disorder is caused by inefficient posttranslational glycosylation of glycoproteins. Patients with the syndrome present early in life with psychom
Genital abnormalities in Pallister–Hall syndrome: Report of two patients and review of the literature
✍ Scribed by Yoko Narumi; Tomoki Kosho; Goro Tsuruta; Masaaki Shiohara; Ei Shimazaki; Tetsuo Mori; Ayako Shimizu; Yasuhiko Igawa; Shuji Nishizawa; Kimiyo Takagi; Rie Kawamura; Keiko Wakui; Yoshimitsu Fukushima
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 127 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
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