Distinguishing costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a costello phenotype [1]

American Journal of Medical Genetics, Part A

Volumn 140, Issue 15, 2006, Pages 1681-1683

  Rauen, Katherine A ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; K RAS PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE KINASE 2; RAS PROTEIN;

ACANTHOSIS NIGRICANS; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BRAF GENE; CARDIOFACIOCUTANEOUS SYNDROME; CLINICAL FEATURE; COSTELLO SYNDROME; DEVELOPMENTAL DISORDER; FUNNEL CHEST; GENE; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; HYPERPIGMENTATION; LETTER; MISSENSE MUTATION; NEVUS; PHENOTYPE; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; PROTEIN DOMAIN; SCOLIOSIS; SEIZURE; SEQUENCE ANALYSIS; STRABISMUS;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CRANIOFACIAL ABNORMALITIES; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; MALE; MUTATION; PHENOTYPE; PROTO-ONCOGENE PROTEINS B-RAF; SKIN ABNORMALITIES; SYNDROME;

EID: 33746603954     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31315     Document Type: Letter

References (7)

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