alexa LMX1B gene mutation

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LMX1B gene mutation

Nail-patella syndrome (NPS) is a rare autosomal dominant disorder that is highly penetrant with marked phonotypical variability among inter- and intra-familial cases. We describe here a patient with a characteristic phenotype of familial bilateral symmetrical hypoplastic nails of the upper limbs and a small patella displaced by ultrasound.

Citation: Abdulkareem IAI, Abdi S, Fawaz MAI, Balwi MAl (2011) LMX1B gene mutation in a Saudi patient with bilateral symmetrical hypoplastic nails of the upper limbs. J Genet Syndr Gene Ther 2:108.

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