Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation

American Journal of Medical Genetics, Part A

Volumn 164, Issue 1, 2014, Pages 243-250

  Manickam, Kandamurugu ^a   Donoghue, Daniel J ^b   Meyer, April N ^b   Snyder, Pamela J ^c   Prior, Thomas W ^c  

^a NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c OHIO STATE UNIVERSITY   (United States)

Author keywords

Double missense mutation; FGFR3; SADDAN; Skeletal dysplasia

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3; LYSINE; METHIONINE; PROLINE; PROTEIN TYROSINE KINASE; THREONINE; CODON;

ACHONDROPLASIA; ALLELE; ARTICLE; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; CONFORMATIONAL TRANSITION; ENZYME ACTIVITY; FEMALE; FGFR3 GENE; GAIN OF FUNCTION MUTATION; HUMAN; HYPOCHONDROPLASIA; INFANT; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPIC VARIATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SEVERE ACHONDROPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SPINE RADIOGRAPHY; TRANSIENT TRANSFECTION; AMINO ACID SUBSTITUTION; BONE; CELL LINE; CHEMISTRY; CODON; GENE EXPRESSION; GENETICS; METABOLISM; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; PHOSPHORYLATION; RADIOGRAPHY;

ACHONDROPLASIA; AMINO ACID SUBSTITUTION; BONE AND BONES; CELL LINE; CODON; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION; HUMANS; INFANT; MUTATION, MISSENSE; PHENOTYPE; PHOSPHORYLATION; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3;

EID: 84890796808     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36236     Document Type: Article

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