TY  - GEN
AU  - Lin,Dar-Shong
AU  - Chang,Jui-Hsing
AU  - Liu,Hsuan-Liang
AU  - Wei,Chin-Hung
AU  - Yeung,Chun-Yan
AU  - Ho,Che-Sheng
AU  - Shu,Chyong-Hsin
AU  - Chiang,Ming-Fu
AU  - Chuang,Chih-Kuang
AU  - Huang,Yu-Wen
AU  - Wu,Tsu-Yen
AU  - Jian,Yuan-Ren
AU  - Huang,Zon-Darr
AU  - Lin,Shuan-Pei
TI  - Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome
SN  - 1552-4833
PY  - 2012///0430
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - Corneal Opacity
KW  - diagnosis
KW  - Cutis Laxa
KW  - Exons
KW  - Gene Expression
KW  - Heterozygote
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Mutation
KW  - Phenotype
KW  - Pyrroline Carboxylate Reductases
KW  - delta-1-Pyrroline-5-Carboxylate Reductase
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.34326
ER  -