Acro-cardio-facial syndrome: A microdeletion syndrome?

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 8, 2012, Pages 1994-1999

  Toschi, Benedetta ^a   Valetto, Angelo ^a   Bertini, Veronica ^a   Congregati, Caterina ^a   Cantinotti, Massimiliano ^b   Assanta, Nadia ^b   Simi, Paolo ^a  

^a UNIVERSITY OF PISA   (Italy)

^b G PASQUINUCCI HOSPITAL   (Italy)

Author keywords

Array CGH; Autosomal recessive; Congenital heart defect; Deletion 6q; Hand deformities; Heterogeneity; Microdeletion syndrome

Indexed keywords

ACROCARDIOFACIAL SYNDROME; ARTICLE; BREECH PRESENTATION; CAMPTODACTYLY; CASE REPORT; CESAREAN SECTION; CHROMOSOME 6Q; CHROMOSOME DELETION; CLEFT LIP; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL DISORDER; ECTRODACTYLY; FACE MALFORMATION; FETUS ECHOGRAPHY; GENITAL MALFORMATION; HEARING LOSS; HUMAN; MALE; MICRODELETION SYNDROME; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OXYGEN SUPPLY; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; FACE; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; SYNDROME;

EID: 84864140368     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35444     Document Type: Article

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