Cornelia de Lange syndrome: Extending the physical and psychological phenotype

American Journal of Medical Genetics, Part A

Volumn 152, Issue 5, 2010, Pages 1127-1135

  Oliver, Chris ^a   Bedeschi, Maria Francesca ^b   Blagowidow, Natalie ^c   Carrico, Cheri S ^d   Cereda, Anna ^e   FitzPatrick, David R ^f   Gervasini, Cristina ^g   Griffith, Gemma M ^h   Kline, Antonie D ^c   Marchisio, P ^b   Moss, Joanna ^a,i   Ramos, Feliciano J ^j   Selicorni, Angelo ^k   Tunnicliffe, Penny ^a   Wierzba, Jolanta ^k   Hennekam, Raoul C M ^l  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b Department of Maternal and Pediatric Sciences ^*  (Italy)

^c GREATER BALTIMORE MEDICAL CENTER   (United States)

^d ELMHURST COLLEGE   (United States)

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

^f WESTERN GENERAL HOSPITAL   (United Kingdom)

^g Medical Genetics   (Italy)

^h BANGOR UNIVERSITY   (United Kingdom)

ⁱ KING'S COLLEGE LONDON   (United Kingdom)

^j UNIVERSITY OF ZARAGOZA   (Spain)

^k MEDICAL UNIVERSITY OF GDANSK   (Poland)

^l ACADEMIC MEDICAL CENTER   (Netherlands)

more..

Author keywords

Behavioral phenotype; Cornelia de Lange syndrome

Indexed keywords

COHESIN;

ABDOMINAL RADIOGRAPHY; AGING; AUTOMUTILATION; CLINICAL FEATURE; CONFERENCE PAPER; CTCF GENE; DE LANGE SYNDROME; DISEASE SEVERITY; FEEDING; GENE; GENE MUTATION; GENE REARRANGEMENT; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEALTH; HUMAN; MOLECULAR GENETICS; NIPBL GENE; PDS5A GENE; PHENOTYPE; PRIORITY JOURNAL; QUESTIONNAIRE; SENSORY DYSFUNCTION; SMC1A GENE; SOCIAL INTERACTION; ULTRASOUND;

ABDOMEN; ADOLESCENT; ADULT; AGING, PREMATURE; DE LANGE SYNDROME; FEEDING BEHAVIOR; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT, NEWBORN; MUTATION; PHENOTYPE; REPRESSOR PROTEINS;

EID: 77951724830     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33363     Document Type: Conference Paper

References (16)

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