[HTML][HTML] Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients
M Kagami, K Nagasaki, R Kosaki, R Horikawa…�- Genetics in�…, 2017 - Elsevier
Purpose Temple syndrome (TS14) is a rare imprinting disorder caused by aberrations at the
14q32. 2 imprinted region. Here, we report comprehensive molecular and clinical findings in
32 Japanese patients with TS14. Methods We performed molecular studies for TS14 in 356
patients with variable phenotypes, and clinical studies in all TS14 patients, including 13
previously reported. Results We identified 19 new patients with TS14, and the total of 32
patients was made up of 23 patients with maternal uniparental disomy (UPD (14) mat), six�…
14q32. 2 imprinted region. Here, we report comprehensive molecular and clinical findings in
32 Japanese patients with TS14. Methods We performed molecular studies for TS14 in 356
patients with variable phenotypes, and clinical studies in all TS14 patients, including 13
previously reported. Results We identified 19 new patients with TS14, and the total of 32
patients was made up of 23 patients with maternal uniparental disomy (UPD (14) mat), six�…