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JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2009; 19 (3): 186-188
en Inglés | IMEMR | ID: emr-91629

RESUMEN

Laurence-Moon-Bardet-Biedl syndrome is a rare, genetically heterogeneous autosomal recessive disorder, characterized by progressive retinal dystrophy, polydactyly, obesity, hypogonadism, mental retardation, and renal dysfunction. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological features. Herein, 2 patients with Laurence-Moon-Bardet-Biedl syndrome are described, who had features of persistent hypokalemia and megaloblastic anemia


Asunto(s)
Humanos , Masculino , Síndrome de Bardet-Biedl/genética , Síndrome de Bardet-Biedl/epidemiología , Anemia Megaloblástica , Hipopotasemia , Parálisis Periódica Hipopotasémica
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