Further confirmation of the MED13L haploinsufficiency syndrome

European Journal of Human Genetics

Volumn 23, Issue 1, 2015, Pages 135-138

  Van Haelst, Mieke M ^a   Monroe, Glen R ^a   Duran, Karen ^a   Van Binsbergen, Ellen ^a   Breur, Johannes M ^a   Giltay, Jacques C ^a   Van Haaften, Gijs ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; MED13L PROTEIN, HUMAN; MEDIATOR COMPLEX;

AMINO ACID SEQUENCE; AMINO TERMINAL SEQUENCE; ARTICLE; BINDING SITE; CASE REPORT; CHILD; CONGENITAL HEART MALFORMATION; DNA DETERMINATION; EXON; FACE ASYMMETRY; FACE MALFORMATION; FALLOT TETRALOGY; FEMALE; GENE DELETION; GENETIC DISORDER; HAPLOINSUFFICIENCY; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INTELLECTUAL IMPAIRMENT; MACROGLOSSIA; MALE; MED13L HAPLOINSUFFICIENCY SYNDROME; MUSCLE HYPOTONIA; PALPEBRAL FISSURE; PATENT FORAMEN OVALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY VALVE ATRESIA; PULMONARY VEIN MALFORMATION; RNA SPLICING; SPEECH DELAY; ABNORMALITIES, MULTIPLE; ALTERNATIVE RNA SPLICING; COMPARATIVE GENOMIC HYBRIDIZATION; EXOME; FACIES; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; MUTATION; PHENOTYPE; SYNDROME;

ABNORMALITIES, MULTIPLE; ALTERNATIVE SPLICING; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; EXOME; FACIES; FEMALE; HAPLOINSUFFICIENCY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MALE; MEDIATOR COMPLEX; MUTATION; PHENOTYPE; SYNDROME;

EID: 84927052857     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.69     Document Type: Article

References (6)

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