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 Huang, Shuan Pei Lin

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15 Citations (Scopus)

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Medicine & Life Sciences