Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: An autopsy study

American Journal of Medical Genetics

Volumn 137 A, Issue 1, 2005, Pages 1-8

  Mauci, Elizabeth A ^a,c   Martinez, Jose E ^a   Horenstein, Marcelo G ^a   Gardner, Todd M ^a   Ahmed, Arsalan ^a   Mancao, Mary C ^a   Gremse, David A ^a   Gardner, David M ^a   Nimityongskul, Prasit ^a   Maertens, Paul ^a   Riddick, Leroy ^a   Kavamura, Maria I ^b  

^a UNIVERSITY OF SOUTH ALABAMA   (United States)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^c USA Children's and Women's Hospital   (United States)

Author keywords

Cardio facio cutaneous; Cardiofacio cutaneous; CFC; Islet cell hyperplasia; Onion bulb formations; Peripheral neuropathy; Thymic atrophy

Indexed keywords

AUTOPSY; BRAIN VENTRICLE DILATATION; BRONCHOMALACIA; CARDIOFACIOCUTANEOUS SYNDROME; CASE REPORT; CONFERENCE PAPER; CONTROLLED STUDY; DEMYELINATING DISEASE; DYSPLASIA; EAR DISEASE; EXOPHTHALMOS; HAIR DISEASE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERTELORISM; KERATOSIS; KERATOSIS PILARIS ATROPHICANS FACIEI; MACROCEPHALY; MACROSOMIA; MALE; MALNUTRITION; MUSCLE HYPOTONIA; PANCREAS ISLET CELL HYPERPLASIA; PATHOGENESIS; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; PSYCHOSOCIAL DISORDER; PTOSIS; REMYELINIZATION; RESPIRATORY DISTRESS; SCHOOL CHILD; SHORT STATURE; SKIN DISEASE; STRABISMUS; TRACHEOBRONCHOMALACIA; ULERYTHEMA OPHRYOGENES; WRINKLE;

ABNORMALITIES, MULTIPLE; AUTOPSY; CHILD; CHILD NUTRITION DISORDERS; FACE; FATAL OUTCOME; HEART DEFECTS, CONGENITAL; HUMANS; KARYOTYPING; MALE; PERIPHERAL NERVOUS SYSTEM DISEASES; SKIN ABNORMALITIES; SYNDROME;

ALLIUM CEPA;

EID: 23344433483     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30834     Document Type: Conference Paper

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