Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation

American Journal of Medical Genetics, Part A

Volumn 149, Issue 8, 2009, Pages 1749-1753

  Tanpaiboon, Pranoot ^a   Sittiwangkul, Rekwan ^a   Dejkhamron, Prapai ^a   Srikummool, Metawee ^b   Sripathomsawat, Warissara ^b   Kantaputra, Piranit ^b  

^a Faculty of Medicine Chiang Mai University   (Thailand)

^b Faculty of Dentistry   (Thailand)

Author keywords

Acro cardio facial syndrome; Cleft lip and palate; Congenital heart defects; Hemivertebrae; Scoliosis; Subclinical hyperthyroidism

Indexed keywords

PROTEIN P63;

ACID ASPIRATION; ACROCARDIOFACIAL SYNDROME; ADOLESCENT; ARTICLE; BIRTH WEIGHT; CASE REPORT; CHROMOSOME ANALYSIS; CLEFT LIP PALATE; CLEFT PALATE; CLINICAL FEATURE; CONGENITAL MALFORMATION; CONSANGUINITY; CYANOSIS; DELIVERY; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; ECHOGRAPHY; ECTRODACTYLY; FACE MALFORMATION; FALLOT TETRALOGY; GENE MUTATION; GENE SEQUENCE; GENITAL MALFORMATION; GESTATIONAL AGE; GROWTH RETARDATION; HUMAN; HYPERTELORISM; HYPERTHYROIDISM; KARYOTYPE 46,XY; MALE; MENTAL DEFICIENCY; MICROPENIS; MOUTH HYGIENE; NEUROLOGIC EXAMINATION; PHENOTYPE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMINENT EAR; PULMONARY ARTERY MALFORMATION; RADIODIAGNOSIS; SCOLIOSIS; UNCONSCIOUSNESS; VERTEBRA MALFORMATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; FEMALE; HAND; HUMANS; MALE; MUTATION; PHENOTYPE; SYNDROME; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEINS; YOUNG ADULT;

EID: 68049113481     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32737     Document Type: Article

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