Compound heterozygous mutations in PYCR1 further expand the...

American Journal of Medical Genetics Part A 2011 Vol. 155; Iss. 12

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome

Dar-Shong Lin, Jui-Hsing Chang, Hsuan-Liang Liu, Chin-Hung Wei, Chun-Yan Yeung, Che-Sheng Ho, Chyong-Hsin Shu, Ming-Fu Chiang, Chih-Kuang Chuang, Yu-Wen Huang, Tsu-Yen Wu, Yuan-Ren Jian, Zon-Darr Huan
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Volume:
155
Year:
2011
Language:
english
Pages:
5
DOI:
10.1002/ajmg.a.34326
File:
PDF, 386 KB
english, 2011
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