A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability

American Journal of Medical Genetics

Volumn 136 A, Issue 1, 2005, Pages 84-86

  Mingarelli, Rita ^a   Zuccarello, Daniela ^a,b   Digilio, Maria Cristina ^c   Dallapiccola, Bruno ^a,b  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Acro cardio facial syndrome; Autosomal recessive inheritance; CCGE syndrome; Congenital heart defect; Ectrodactyly

Indexed keywords

ACROCARDIOFACIAL SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLEFT PALATE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; ECTRODACTYLY; FACE DYSMORPHIA; GENITAL MALFORMATION; HUMAN; MALE; MALFORMATION SYNDROME; NEWBORN; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; FACE; FATAL OUTCOME; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; KARYOTYPING; PALATE; SYNDACTYLY; SYNDROME;

EID: 21644475159     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30770     Document Type: Article

References (5)

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