Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

American Journal of Medical Genetics, Part A

Volumn 155, Issue 4, 2011, Pages 706-716

  Gripp, Karen W ^a   Hopkins, Elizabeth ^a   Sol Church, Katia ^a   Stabley, Deborah L ^a   Axelrad, Marni E ^b   Doyle, Daniel ^a   Dobyns, William B ^c   Hudson, Cindy ^d   Johnson, John ^d   Tenconi, Romano ^e   Graham, Gail E ^f   Sousa, Ana Berta ^g   Heller, Raoul ^h   Piccione, Maria ⁱ   Corsello, Giovanni ⁱ   Herman, Gail E ^j   Tartaglia, Marco ^k   Lin, Angela E ^l  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^d Shodair Children's Hospital   (United States)

^e UNIVERSITY OF PADOVA   (Italy)

^f CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^g HOSPITAL DE SANTA MARIA   (Portugal)

^h UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

ⁱ UNIVERSITY OF PALERMO   (Italy)

^j THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN S HOSPITAL   (United States)

^k ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^l MASSACHUSETTS GENERAL HOSPITAL   (United States)

more..

Author keywords

Costello syndrome; Genotype phenotype correlation; Loose anagen hair; Rasopathy

Indexed keywords

CYSTEINE; GLYCINE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COARSE FACE; COHORT ANALYSIS; CONTROLLED STUDY; COSTELLO SYNDROME; DEVELOPMENTAL DISORDER; DOLICHOCILIA; EYELASH; FAILURE TO THRIVE; FEMALE; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAIR DISEASE; HUMAN; HYDRAMNIOS; HYPERTROPHIC CARDIOMYOPATHY; MACROCEPHALY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; ONCOGENE H RAS; POSTERIOR FOSSA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SUPRAVENTRICULAR TACHYCARDIA; WRIST DISLOCATION;

EID: 79953295126     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33884     Document Type: Article

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