Article
Smith-Magenis Syndrome: Face Speaks.
Indian journal of pediatrics - 1 Jun 2016
Gupta Rekha, Gupta Neerja, Nampoothiri Sheela, Mandal Kausik, Kishore Yougal, Sharma Pankaj, Kabra Madhulika, Phadke Shubha R
Abstract excerpt
Smith-Magenis syndrome is a well delineated microdeletion syndrome with characteristic facial and behavioral phenotype. With the availability of the multi-targeted molecular cytogenetic techniques like Multiplex Ligation Probe Amplification and cytogenetic microarray, the cases are diagnosed even without clinical suspicion. Here, the authors present clinical features of nine Indian cases of Smith-Magenis...
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