Article
Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene.
European journal of medical genetics - 1 Aug 2015
Tamhankar Parag M, Vasudevan Lakshmi, Bansal Vandana, Menon Shyla R, Gawde Harshavardhan M, D'Souza Aruna, Babu Shiny, Kondurkar Shweta, Adhia Rashmi, Das Dhanjit Kumar
Abstract excerpt
Lenz-Majewski syndrome (LMS) is an extremely rare syndrome characterized by osteosclerosis, intellectual disability, characteristic facies and distinct craniofacial, dental, cutaneous and distal - limb anomalies. Recently, mutations in PTDSS1 gene have been identified as causative in six unrelated individuals. We report the seventh mutation proven case of LMS and provide a concise review of all known patients...
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