All individuals with variants in gene KRT16

2 entries on 1 page. Showing entries 1 - 2.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00054881 - PubMed: Corbett 2011, Journal: Corbett 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F yes Australia - 32y 0 - - EPM-6 7y tremor; 7-8y absences; 8y obvious myoclonus; 13y drop attacks; 13y convulsive seizures; 2y areflexia; 14y wheelchair; 22y bedfast; normal cognition until 25y, mmemory difficulties later; scoliosis, pes cavus; EEG generalized spike-wave, posterior emphasis photosensitive; CK 570–800 (normal <170) 1 1 Johan den Dunnen
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