De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

Human Genetics

Volumn 134, Issue 1, 2015, Pages 97-109

  Kuechler, Alma ^a   Willemsen, Marjolein H ^b   Albrecht, Beate ^a   Bacino, Carlos A ^c   Bartholomew, Dennis W ^d   van Bokhoven, Hans ^b   van den Boogaard, Marie Jose H ^e   Bramswig, Nuria ^a   Büttner, Christian ^f   Cremer, Kirsten ^g   Czeschik, Johanna Christina ^a   Engels, Hartmut ^g   van Gassen, Koen ^e   Graf, Elisabeth ^h   van Haelst, Mieke ^e   He, Weimin ^c   Hogue, Jacob S ⁱ   Kempers, Marlies ^b   Koolen, David ^b   Monroe, Glen ^e   de Munnik, Sonja ^b   Pastore, Matthew ^d   Reis, André ^f   Reuter, Miriam S ^f   Tegay, David H ^j   Veltman, Joris ^b   Visser, Gepke ^k   van Hasselt, Peter ^k   Smeets, Eric E J ^l   Vissers, Lisenka ^b   Wieland, Thomas ^h   Wissink, Willemijn ^b   Yntema, Helger ^b   Zink, Alexander Michael ^g   Strom, Tim M ^h   Lüdecke, Hermann Josef ^a   Kleefstra, Tjitske ^b   Wieczorek, Dagmar ^a   more..

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d NATIONWIDE CHILDREN S HOSPITAL   (United States)

^e Utrecht Medical Center   (Netherlands)

^f UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^g UNIVERSITY OF BONN   (Germany)

^h INSTITUTE OF EPIDEMIOLOGY   (Germany)

ⁱ MADIGAN ARMY MEDICAL CENTER   (United States)

^j NEW YORK INSTITUTE OF TECHNOLOGY   (United States)

^k UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^l MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BETA CATENIN; CTNNB1 PROTEIN, HUMAN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL MATURATION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FACIES; FAMILY; FEMALE; FRAMESHIFT MUTATION; GAIN OF FUNCTION MUTATION; GENE DELETION; GENE MUTATION; GERMLINE MUTATION; HETEROZYGOTE; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MALE; MICROCEPHALY; MISSENSE MUTATION; MOTOR DYSFUNCTION; MOUSE; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; MUSCLE TONE; NERVE CELL DIFFERENTIATION; NONHUMAN; NONSENSE MUTATION; PHENOTYPE; PHILTRUM; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SCHOOL CHILD; SOMATIC MUTATION; SPASTICITY; SPEECH DISORDER; UPPER LIP; WNT SIGNALING PATHWAY; FOLLOW UP; GENETICS; HAPLOINSUFFICIENCY; MUTATION; PATHOLOGY; SYNDROME;

BETA CATENIN; CHILD; CHILD, PRESCHOOL; FEMALE; FOLLOW-UP STUDIES; HAPLOINSUFFICIENCY; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MUTATION; PHENOTYPE; SYNDROME;

EID: 84922005672     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-014-1498-1     Document Type: Article

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