Mutations in MED12 cause X-linked ohdo syndrome

American Journal of Human Genetics

Volumn 92, Issue 3, 2013, Pages 401-406

  Vulto Van Silfhout, Anneke T ^a   De Vries, Bert B A ^a   Van Bon, Bregje W M ^a   Hoischen, Alexander ^a,b   Ruiterkamp Versteeg, Martina ^a   Gilissen, Christian ^a,b   Gao, Fangjian ^c   Van Zwam, Marloes ^a   Harteveld, Cornelis L ^d   Van Essen, Anthonie J ^e   Hamel, Ben C J ^a   Kleefstra, Tjitske ^a   Willemsen, Michèl A A P ^a,f   Yntema, Helger G ^a   Van Bokhoven, Hans ^a,f   Brunner, Han G ^a,b   Boyer, Thomas G ^c   De Brouwer, Arjan P M ^a,f  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF TEXAS AT SAN ANTONIO   (United States)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^f RADBOUD UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; ASPARAGINE; CYSTEINE; GLYCINE; HISTIDINE; MED12 OPROTEIN; MEDIATOR COMPLEX; PROLINE; SERINE; THREONINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BLEPHAROPHIMOSIS; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; EXOME; EXOME SEQUENCING; FAMILY; GENE EXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; HEMIZYGOTE; HISTOPATHOLOGY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OHDO SYNDROME; PHENOTYPE; PRIORITY JOURNAL; RISK FACTOR; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; CHILD; CHILD, PRESCHOOL; EXOME; GENES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; MEDIATOR COMPLEX; MUTATION, MISSENSE; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84876413890     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.01.007     Document Type: Article

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