## We have characterized a familial form of osteogenesis imperfecta (OI) . Following the identification by ultrasound of short limbs and multiple fractures in a fetus at 25 weeks of gestation, the family was referred with a provisional diagnosis of severe OI. We detected subtle clinical and radiolo
โฆ LIBER โฆ
Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2
โ Scribed by Takayuki Konno; Yuko Abe; Masakazu Kawaguchi; Katrien Storm; Martine Biervliet; Winnie Courtens; Michihiro Kono; Yasushi Tomita; Tamio Suzuki
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 172 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
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