Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations

American Journal of Medical Genetics, Part A

Volumn 167, Issue 7, 2015, Pages 1429-1435

  Peacock, Jacqueline D ^a   Dykema, Karl J ^a   Toriello, Helga V ^b   Mooney, Marie R ^a   Scholten, Donald J ^a,b   Winn, Mary E ^a   Borgman, Andrew ^a   Duesbery, Nicholas S ^a   Hiemenga, Judith A ^c   Liu, Cong ^c   Campbell, Stacey ^c   Nickoloff, Brian P ^a,b   Williams, Bart O ^a   Steensma, Matthew ^a,b,c,d  

^a VAN ANDEL RESEARCH INSTITUTE   (United States)

^b MICHIGAN STATE UNIVERSITY   (United States)

^c SPECTRUM HEALTH   (United States)

^d HELEN DEVOS CHILDREN S HOSPITAL   (United States)

Author keywords

Mosaicism; Oculoectodermal syndrome; RAS MAPK pathway; RASopathy

Indexed keywords

DNA; K RAS PROTEIN; KRAS PROTEIN, HUMAN; PROTEIN P21;

ADULT; ARTICLE; BONE MARROW BIOPSY; BONE RADIOGRAPHY; CASE REPORT; CHILD; CLINICAL FEATURE; CODON; COMPARATIVE STUDY; CONGENITAL DISORDER; EPIBULBAR DERMOID; FEMALE; FIBROMA; GENE FREQUENCY; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; GIANT CELL GRANULOMA; HUMAN; HUMAN TISSUE; HYPERPIGMENTATION; INCIDENTAL FINDING; MALE; MISSENSE MUTATION; OCULOECTODERMAL SYNDROME; ONCOGENE K RAS; ONSET AGE; PHENOTYPE; POLYOSTOTIC NONOSSIFYING FIBROMA; PRIORITY JOURNAL; SCHOOL CHILD; SKIN APLASIA; SKIN BIOPSY; SKIN DISEASE; TERATOMA; CHORISTOMA; CORNEA DISEASE; DNA SEQUENCE; ECTODERMAL DYSPLASIA; GENETICS; GROWTH DISORDER; HUMAN GENOME; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PRESCHOOL CHILD; SCALP;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHORISTOMA; CORNEAL DISEASES; DERMOID CYST; ECTODERMAL DYSPLASIA; FEMALE; GENE FREQUENCY; GENOME, HUMAN; GROWTH DISORDERS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTO-ONCOGENE PROTEINS P21(RAS); SCALP; SEQUENCE ANALYSIS, DNA;

EID: 84931356468     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37048     Document Type: Article

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