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2015, Number 3

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Dermatología Cosmética, Médica y Quirúrgica 2015; 13 (3)

Nail-Patella Syndrome: Report of a Case

Aquino FCJ, Arenas GR, Fonte ÁV

Language: Spanish
References: 14
Page: 228-231
PDF size: 161.24 Kb.


ABSTRACT

The nail-patella syndrome is a rare autosomal dominant inherited disorder, not sex-linked, with complete penetrance and variable expressivity. The incidence is about 1 case per 100 000 births. It is due to mutations in the LMX1B gene located on chromosome 9q34, and characterized by muscular, skeletal, cutaneous and renal abnormalities. We present a 21 years old male with congenital nail dystrophy and patella hipoplasia, with a family history of kidney malformations.


REFERENCES

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