Snyder-Robinson syndrome

• मुख्य लेखकों: Rachel Starks (लेखक), Patricia Kirby (लेखक), Michael Ciliberto (लेखक), Marco Hefti (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: University of São Paulo, 2018-11-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Snyder-Robinson syndrome, also known as spermine synthase deficiency, is an X-linked intellectual disability syndrome (OMIM #390583). First described by Drs. Snyder and Robinson in 1969, this syndrome is characterized by an asthenic body habitus, facial dysmorphism, broad-based gait, and osteoporosi...