Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 8, 2012, Pages 2015-2020

  Morris, Benjamin ^a   Etoubleau, Cécile ^b   Bourthoumieu, Sylvie ^b   Reynaud Perrine, Sandrine ^b   Laroche, Cécile ^b   Lebbar, Aziza ^c   Yardin, Catherine ^b   Elsea, Sarah H ^a  

^a VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^b UNIVERSITY OF LIMOGES   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

2q37 deletion syndrome; BDMR; Brachydactyly mental retardation syndrome; HDAC4; Intellectual disability; Microdeletion; Translocation; Type E brachydactyly

Indexed keywords

HISTONE DEACETYLASE 4;

ADOLESCENT; ARTICLE; AUTISM; BEHAVIOR DISORDER; BRACHYDACTYLY; CASE REPORT; CHROMOSOME 10Q; CHROMOSOME 2Q; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION; CRANIOFACIAL MALFORMATION; DISEASE SEVERITY; FEMALE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; HEART FUNCTION; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MONOSOMY; NERVOUS SYSTEM FUNCTION; PARENT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKELETON MALFORMATION; SYMPTOM; TRISOMY;

ADOLESCENT; BRACHYDACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; HISTONE DEACETYLASES; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; REPRESSOR PROTEINS; SYNDROME;

EID: 84864122993     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35463     Document Type: Article

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