KCNH1

Publications

Bramswig  NC et al. ‘Splitting versus lumping’: Temple–Baraitser and Zimmermann– Laband syndromes. Hum Genet. 2015; 134(10):1089-97. PMID: 26264464.

Gabbett MT et al. A second case of severe mental retardation and absent nails of hallux and pollex (Temple–Baraitser syndrome). Am J Med Genet A. 2008; 146A:450– 452. PMID: 18203178.

Mégarbané A et al. Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?. BMC Med Genet. 2016;17(42). PMID: 27282200.

Simons C et al. Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. Nat Genet. 2015: 47: 73-77. PMID: 25420144.

Temple IK et al. Severe mental retardation and absent nails of hallux and pollex. Am J Med Genet. 1991; 41:173–175. PMID: 1785628.