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c.151dup variant in LAMA3 in Pakistani patients affected with Shabbir Syndrome but showing mild symptomsShabbir Syndrome in Pakistani Population

Asmat Ullah, Fibha Syed, Shazia Khan

Objective: To identify genetic causes of Shabbir syndrome in two patients of Pakistani origin.Methods: In the present study, we have investigated a Pakistani family with two affected members segregating Laryngo-onycho-cutaneous (LOC) syndrome. The patient... see more

Shabbir Syndrome | LOC Syndrome | c.151dup | LAMA3 | Diagnostic Marker

Pakistan Journal of Medical Sciences , 2013

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