Cardio-facio-cutaneous syndrome: Clinical features, diagnosis, and management guidelines

Pediatrics

Volumn 134, Issue 4, 2014, Pages e1149-e1162

  Pierpont, Mary Ella M ^a,b,g   Magoulas, Pilar L ^c   Adi, Saleh ^d   Kavamura, Maria Ines ^e   Neri, Giovanni ^f   Noonan, Jacqueline ^g   Pierpont, Elizabeth I ^h   Reinker, Kent ⁱ   Roberts, Amy E ^j   Shankar, Suma ^k   Sullivan, Joseph ^l   Wolford, Melinda ^m   Conger, Brenda ⁿ   Cruz, Molly Santa ⁿ   Rauen, Katherine A ^o  

^a CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^e CATHOLIC UNIVERSITY   (Italy)

^f UNIVERSITY OF KENTUCKY   (United States)

^g UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^h UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

ⁱ BOSTON CHILDREN S HOSPITAL   (United States)

^j EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k UNIVERSITY OF CALIFORNIA   (United States)

^l YOUNGSTOWN STATE UNIVERSITY   (United States)

^m CFC International   (United States)

ⁿ UNIVERSITY OF CALIFORNIA   (United States)

^o UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

Braf mutation; Cardio facio cutaneous syndrome; Management guidelines; Mek1 mutation; Mek2 mutation; RASopathy

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; RAS PROTEIN;

ACANTHOSIS NIGRICANS; CARDIO-FACIO-CUTANEOUS SYNDROME; CLINICAL FEATURE; COGNITIVE THERAPY; CONGENITAL HEART DISEASE; CRANIOFACIAL MALFORMATION; DARIER DISEASE; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; DRY SKIN; EAR LOBE; ECZEMA; ENDOCRINE DISEASE; EYE DISEASE; FACILITATION; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HEALTH CARE PERSONNEL; HEARING IMPAIRMENT; HEMATOLOGIC DISEASE; HUMAN; HYPERPIGMENTATION; INTELLECTUAL IMPAIRMENT; KIDNEY DISEASE; LONG TERM CARE; MACROCEPHALY; MEDICAL SPECIALIST; MOUTH DISEASE; MUSCULOSKELETAL DISEASE; NEUROLOGIC EXAMINATION; NON PROFIT ORGANIZATION; PATIENT CARE; PEDIATRICIAN; PRIORITY JOURNAL; RECURRENCE RISK; REVIEW; SKIN DISEASE; SKIN MANIFESTATION; TOOTH DISEASE; DISEASE MANAGEMENT; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; GENETICS; HEART DEFECTS, CONGENITAL; PRACTICE GUIDELINE; PROCEDURES; STANDARDS;

DIAGNOSIS, DIFFERENTIAL; DISEASE MANAGEMENT; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; GENETIC TESTING; HEART DEFECTS, CONGENITAL; HUMANS; PRACTICE GUIDELINES AS TOPIC;

EID: 84925545671     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2013-3189     Document Type: Review

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