We have studied an infant with cloverleaf skull, proptosis, radioulnar synostosis and broad thumbs and great toes diagnosed as Pfeiffer syndrome type 2. However, there were many overlapping findings with Antley-Bixler syndrome. The patient was found to have a G to T mutation in codon 290 exon 7 of t
β¦ LIBER β¦
Analysis ofRAB27AGene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion Hotspot
β Scribed by Setareh Mamishi; Mohammad Hossein Modarressi; Babak Pourakbari; Banafshe Tamizifar; Fatemeh Mahjoub; Alireza Fahimzad; Soheila Alyasin; Mohamad Hassan Bemanian; Amir Ali Hamidiyeh; Mohammad Reza Fazlollahi; Mahmoud Reza Ashrafi; Anna Isaeian; Ghamartaj Khotaei; Mehdi Yeganeh; Nima Parvaneh
- Book ID
- 106405803
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 145 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0271-9142
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## Genetic deficiency of lysosomal acid β£-glucosidase (acid maltase) results in the autosomal recessive disorder glycogen storage disease type II (GSDII) in which intralysosomal accumulation of glycogen primarily affects function of skeletal and cardiac muscle. During an earlier review we noted 3 i