Ala344Pro mutation in the FGFR2 gene and related clinical findings in one Chinese family with Crouzon syndrome

Molecular Vision

Volumn 18, Issue , 2012, Pages 1278-1282

  Lin, Ying ^a,b   Ai, Siming ^a   Chen, Chuan ^a   Liu, Xialin ^a   Luo, Lixia ^a   Ye, Shaobi ^a   Liang, Xuanwei ^a   Zhu, Yi ^a   Yang, Huasheng ^a   Liu, Yizhi ^a  

^a SUN YAT SEN UNIVERSITY   (China)

^b HARBIN MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADULT; ARTICLE; CASE REPORT; CHINESE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; EXON; EXOPHTHALMOS; EYE EXAMINATION; FEMALE; FGFR2 GENE; GENE; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HUMAN CELL; LEUKOCYTE; MALE; MIDFACE HYPOPLASIA; MISSENSE MUTATION; OPHTHALMOSCOPY; ORBIT; PERIMETRY; PRIORITY JOURNAL; SKULL; SLIT LAMP; VISUAL ACUITY;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD; CRANIOFACIAL DYSOSTOSIS; CRANIOSYNOSTOSES; EXONS; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; SEQUENCE ANALYSIS, DNA; VISUAL ACUITY; YOUNG ADULT;

EID: 84863331805     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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