A new report of Cornelia de Lange syndrome associated with split hand and feet

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 11, 2012, Pages 2953-2955

  Barboni, Chiara ^a   Cereda, Anna ^a   Mariani, Milena ^a   Gervasini, Cristina ^b   Ajmone, Paola ^c   Biondi, Andrea ^a   Selicorni, Angelo ^a  

^a UNIVERSITY OF MILANO BICOCCA   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Cornelia de Lange syndrome; Ectrodactyly; NIPBL; P63; Split foot; Split hand

Indexed keywords

ABNORMAL BEHAVIOR; AGGRESSION; ANGER; ARTICLE; BIFID UVULA; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CHILD; DE LANGE SYNDROME; DISEASE ASSOCIATION; DISEASE SEVERITY; EAR MALFORMATION; ECTRODACTYLY; EYEBROW; EYELASH; FACE MALFORMATION; FRAMESHIFT MUTATION; GASTROESOPHAGEAL REFLUX; GENE; GENE IDENTIFICATION; GENETIC ASSOCIATION; HEAD CIRCUMFERENCE; HUMAN; INTRAUTERINE GROWTH RETARDATION; LANGUAGE DISABILITY; LIP MALFORMATION; LONG PHILTRUM; MALE; MICROGNATHIA; NIPBL GENE; NOSE MALFORMATION; OLIGOHYDRAMNIOS; PALATE MALFORMATION; PHENOTYPE; PRENATAL SCREENING; PRIORITY JOURNAL; SCHOOL CHILD; THIN LIP VERMILION; TOOTH MALFORMATION; TP63 GENE;

CHILD, PRESCHOOL; DE LANGE SYNDROME; FOOT DEFORMITIES, CONGENITAL; FRAMESHIFT MUTATION; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; PROTEINS;

EID: 84867825581     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35623     Document Type: Article

References (7)

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