Keppen-Lubinsky syndrome
Definition:
Keppen-Lubinsky syndrome (KPLBS) is a rare condition characterized by severely reduced facial adipose tissue and thin facial skin combined with severe developmental delay and hypertonia. KPLBS is caused by mutations in KCNJ6, which encodes an inwardly rectifying potassium channel.
References:
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[1]. Andrea Masotti, et al. Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6. Am J Hum Genet. 2015 Feb 5;96(2):295-300. [Content Brief]
[2]. Lina Basel-Vanagaite, et al. Keppen-Lubinsky syndrome: Expanding the phenotype. Am J Med Genet A. 2009 Aug;149A(8):1827-9. [Content Brief]
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