Phenotype and genotype in Nicolaides-Baraitser syndrome

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 166, Issue 3, 2014, Pages 302-314

  Sousa, Sérgio B ^a,d   Hennekam, Raoul C ^b,c,d   Abdul Rahman, Omar ^d   Alders, Marielle ^d   Azzarello Burri, Silvia ^d   Bottani, Armand ^d   Bowdin, Sarah ^d   Castori, Marco ^d   Cormier Daire, Valerie ^d   Deardorff, Matthew ^d   Del Campo Casanelles, Miquel ^d   Devriendt, Koenraad ^d   Fauth, Christine ^d   Filges, Isabel ^d   Fryer, Alan ^e   Garavelli, Livia ^d   Gillessen Kaesback, Gabriele ^d   Hall, Bryan ^d   Hirofumi, Ohasi ^d   Holder, Susan ^f   Hoyer, Juliane ^d   Jenkins, Lucy ^f   Klapeki, Jacub ^d   Krajewska Walasek, Malgorzata ^d   Kosho, Tomoki ^d   Kuechler, Alma ^d   MacDermot, Kay ^f   Magee, Alex ^g   Mari, Francesca ^d   Mathieu Dramard, Michele ^d   Napier, Melanie ^d   Pérez Jurado, Luis A ^d   Picard, Fanny Morice ^d   Morin, Gilles ^d   Murday, Victoria ^h   Pilch, Jacek ^d   Ronan, Anne ^d   Rosser, Elizabeth ^f   Santen, Gijs W E ^d   Scott, Richard ^f   Selicorni, Angelo ^d   Shannon, Nora ⁱ   Santos Simarro, Fernando ^d   Stewart, Helen ^j   van den Boogaard, Marie Jose ^d   Vilain, Catheline ^d   Vermeesch, Joris ^d   Vogels, Annick ^d   Wakeling, Emma ^f   Wieczorek, Dagmar ^d   Yesil, Gozde ^d   Zuffardi, Orsetta ^d   Zweier, Christiane ^d   more..

^a CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d NONE   (Portugal)

^e Universidad de Liverpool   (United Kingdom)

^f London   (United Kingdom)

^g Belfast   (United Kingdom)

^h Glasgow   (United Kingdom)

ⁱ Nottingham   (United Kingdom)

^j Oriel College Oxford   (United Kingdom)

more..

Author keywords

BAF (SWI SNF) complex; Genotype; Intellectual disability; Natural history; Nicolaides baraitser syndrome; Phenotype; SMARCA2

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ALANINE; LEUCINE; PROLINE; SMARCA2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMATIN ASSEMBLY AND DISASSEMBLY; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; MULTIPLE MALFORMATION SYNDROME; MUTATOR GENE; NICOLAIDES BARAITSER SYNDROME; SEIZURE; SHORT STATURE; SMARCA2 GENE; SPEECH DISORDER; CONGENITAL MALFORMATION; CONGENITAL SKIN DISEASE; EPILEPSY; FACE; FACIES; FOOT DEFORMITIES, CONGENITAL; GENETIC ASSOCIATION; GENETICS; HAIR; HYPOTRICHOSIS; INTELLECTUAL DISABILITY; MUTATION; PRESCHOOL CHILD; YOUNG ADULT;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EPILEPSY; FACE; FACIES; FOOT DEFORMITIES, CONGENITAL; GENETIC ASSOCIATION STUDIES; HAIR; HUMANS; HYPOTRICHOSIS; INTELLECTUAL DISABILITY; MUTATION; SKIN ABNORMALITIES; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84908617685     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31409     Document Type: Article

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