IGF1R variants associated with isolated single suture craniosynostosis

American Journal of Medical Genetics, Part A

Volumn 155, Issue 1, 2011, Pages 91-97

  Cunningham, Michael L ^a,b,c   Horst, Jeremy A ^a   Rieder, Mark J ^a   Hing, Anne V ^a,b   Stanaway, Ian B ^a   Park, Sarah S ^a,b   Samudrala, Ram ^a   Speltz, Matthew L ^a,b  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c SEATTLE CHILDREN S HOSPITAL   (United States)

Author keywords

Coronal; Craniosynostosis; IGF1R; Isolated; Metopic; Non syndromic; Non synonymous SNP; Resequencing; Sagittal; Simple

Indexed keywords

SOMATOMEDIN C; SOMATOMEDIN C RECEPTOR;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; AMINO ACID ANALYSIS; ARTICLE; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HUMAN; MUTATIONAL ANALYSIS; NERVE CELL DIFFERENTIATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN QUATERNARY STRUCTURE; SEQUENCE ANALYSIS; STRUCTURE ANALYSIS;

AMINO ACID SEQUENCE; BASE SEQUENCE; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTEIN CONFORMATION; RECEPTOR, IGF TYPE 1;

EID: 78650656890     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33781     Document Type: Article

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