Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

European Journal of Human Genetics

Volumn 23, Issue 11, 2015, Pages 1499-1504

  Cafiero, Concetta ^a   Marangi, Giuseppe ^a   Orteschi, Daniela ^a   Ali, Marwan ^b   Asaro, Alessia ^a   Ponzi, Emanuela ^a   Moncada, Alice ^a   Ricciardi, Stefania ^a   Murdolo, Marina ^a   Mancano, Giorgia ^a   Contaldo, Ilaria ^a   Leuzzi, Vincenzo ^c   Battaglia, Domenica ^a   Mercuri, Eugenio ^a   Slavotinek, Anne M ^b   Zollino, Marcella ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MED13L PROTEIN; PROTEIN; SYNAPTOTAGMIN I; UNCLASSIFIED DRUG; MED13L PROTEIN, HUMAN; MEDIATOR COMPLEX;

ARTICLE; ATAXIA; BRACHYCEPHALY; CASE REPORT; CHILD; CHILDHOOD LEUKEMIA; CLEFT PALATE; CLINICAL FEATURE; CLINICAL STUDY; CODON; CONGENITAL HEART DISEASE; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; EPILEPSY; EXOME; EXON; FACIES; FEMALE; GENE DELETION; GENE DUPLICATION; GENETIC DISORDER; GENETIC VARIABILITY; HEARING IMPAIRMENT; HETEROZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MACROCEPHALY; MED13L HAPLOINSUFFICIENCY SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; ADULT; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; FRAMESHIFT MUTATION; GENETIC HETEROGENEITY; GENETICS; HAPLOINSUFFICIENCY; HIGH THROUGHPUT SEQUENCING; MALE; PATHOPHYSIOLOGY;

ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CLEFT PALATE; FACIES; FEMALE; FRAMESHIFT MUTATION; GENETIC HETEROGENEITY; HAPLOINSUFFICIENCY; HEART DEFECTS, CONGENITAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; MALE; MEDIATOR COMPLEX; PHENOTYPE; SEQUENCE DELETION;

EID: 84944355693     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.19     Document Type: Article

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