Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

American Journal of Human Genetics

Volumn 89, Issue 2, 2011, Pages 289-294

  Sirmaci, Asli ^a   Spiliopoulos, Michail ^a   Brancati, Francesco ^b,c,d   Powell, Eric ^a   Duman, Duygu ^e   Abrams, Alex ^a   Bademci, Guney ^a   Agolini, Emanuele ^b   Guo, Shengru ^a   Konuk, Berrin ^e   Kavaz, Asli ^e   Blanton, Susan ^a   Digilio, Maria Christina ^f   Dallapiccola, Bruno ^f   Young, Juan ^a   Zuchner, Stephan ^a   Tekin, Mustafa ^a,e  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

^d UNIVERSITY OF CHIETI   (Italy)

^e ANKARA UNIVERSITY   (Turkey)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANKYRIN;

ADULT; ANKRD11 GENE; BONE DEVELOPMENT; CELL NUCLEUS; CHILD; CLINICAL ARTICLE; CRANIOFACIAL DEVELOPMENT; GENE; GENE LOCATION; GENE MUTATION; HUMAN; INTELLECTUAL IMPAIRMENT; KBG SYNDROME; MACRODONTIA; MALE; MOUSE; NERVE CELL; NERVE CELL PLASTICITY; NERVOUS SYSTEM DEVELOPMENT; NONHUMAN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; SCHOOL CHILD; SKELETON MALFORMATION; TOOTH DEVELOPMENT; TOOTH MALFORMATION;

EID: 80051664488     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.06.007     Document Type: Article

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