MED12 related disorders

American Journal of Medical Genetics, Part A

Volumn 161, Issue 11, 2013, Pages 2734-2740

  Graham, John M ^a   Schwartz, Charles E ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b GREENWOOD GENETIC CENTER   (United States)

Author keywords

FG syndrome; Lujan Fryns syndrome; MED12, X linked intellectual disability, Ohdo syndrome (Maat Kievit Brunner type); Opitz Kaveggia syndrome

Indexed keywords

MEDIATOR COMPLEX; PROTEIN MED12; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME XQ; CLINICAL FEATURE; COGNITIVE DEFECT; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC HETEROGENEITY; HUMAN; INTELLECTUAL IMPAIRMENT; LUJAN SYNDROME; MALFORMATION SYNDROME; MED12 GENE; OHDO SYNDROME; OPITZ KAVEGGIA SYNDROME; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER; X LINKED INTELLECTUAL DISABILITY;

ERINACEIDAE;

FG SYNDROME; LUJAN-FRYNS SYNDROME; MED12, X-LINKED INTELLECTUAL DISABILITY, OHDO SYNDROME (MAAT-KIEVIT-BRUNNER TYPE); OPITZ-KAVEGGIA SYNDROME;

AGENESIS OF CORPUS CALLOSUM; ANUS, IMPERFORATE; CHILD; CHILD, PRESCHOOL; CONSTIPATION; CRANIOFACIAL ABNORMALITIES; FACIES; FEMALE; GENES, X-LINKED; GENETIC DISEASES, INBORN; HUMANS; MALE; MARFAN SYNDROME; MEDIATOR COMPLEX; MENTAL RETARDATION, X-LINKED; MUSCLE HYPOTONIA; MUTATION; PHENOTYPE;

EID: 84886300341     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36183     Document Type: Article

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