1. How to submit my research paper? What’s the process of publication of my paper?
The journal receives submitted manuscripts via email only. Please submit your research paper in .doc or.pdf format to the submission email: ijlbpr@ejournal.net.
You’ll be given a paper number if your submission is successful. Your paper then will undergo peer review process, which may take approximately one and a half months under normal circumstances, three tops.
After blind peer review, you will receive the notification letter with the review result of your paper...
2. Can I submit an abstract?
The journal publishes full research papers. So only full paper submission should be [Read More]

Clinical Heterogeneity of Kabuki Syndrome: Study of Moroccan Patients

N Serbati, S Nassereddine, H Dehbi, and S Nadifi
Laboratory of medical genetics, Medical school of Casablanca, Morocco.
Abstract—Kabuki syndrome (KS, Niikawa-Kuroki syndrome, MIM:147920) is a rare multiple congenital anomaly/mental retardation syndrome described simultaneously by Niikawa et al ., 1988 and Kuroki et al ., 1981. The estimated frequency of this syndrome is about 1/32 000 in Japan. KS is characterized by postnatal growth retardation, distinctive facial features, dermatoglyphic anomalies, skeletal dysplasia, and mental retardation. The molecular basis has been recently eluciated. In our report, we present three patients with different clinical features. The first is 17 years old, with a rare congenital heart defect, a perception deafness, neurogenic bladder, facial dysmorphy, joint hyperlaxity and fetal pads. The second patient presents mental retardation, dysmorphic features and seizures. In the third case, there was a mild mental retardation with joint hyperlaxity, facial features and fetal pads. Through the study of these three cases we confirmed that the phenotypic heterogeneity of the kabuki syndrome which makes it under diagnosed.

Index Terms—Kabuki-Niikawa Syndrome, Clinical heterogeneity, Moroccan patients, Genetics, MLL2 gene.

Cite: N Serbati, S Nassereddine, H Dehbi, and S Nadifi, "Clinical Heterogeneity of Kabuki Syndrome: Study of Moroccan Patients," International Journal of Life Sciences Biotechnology and Pharma Research, Vol. 1, No. 1, pp. 68-74, January 2012.
Copyright © 2012-2015 International Journal of Life Sciences Biotechnology and Pharma Research, All Rights Reserved