A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome – review of the literature

Clinical Genetics

Volumn 91, Issue 4, 2017, Pages 647-649

  Boyle, M I ^a   Jespersgaard, C ^a   Nazaryan, L ^a   Bisgaard, A M ^a   Tumer Z ^a  

^a Mental Health Services CPH   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CASE REPORT; CLEFT PALATE; CLINICAL EXAMINATION; DE LANGE SYNDROME; FACIES; FEMALE; GENE; GENETIC VARIABILITY; HEART DISEASE; HUMAN; LEARNING DISORDER; LETTER; NEXT GENERATION SEQUENCING; OSTEOPOROSIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RAD21 GENE; STOP CODON; GENE DELETION; GENETICS; PATHOPHYSIOLOGY; PENETRANCE; SINGLE NUCLEOTIDE POLYMORPHISM;

NUCLEAR PROTEIN; PHOSPHOPROTEIN; RAD21 PROTEIN, HUMAN; STOP CODON;

ADULT; CODON, NONSENSE; DE LANGE SYNDROME; FEMALE; HUMANS; NUCLEAR PROTEINS; PENETRANCE; PHOSPHOPROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION;

EID: 85016123179     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12863     Document Type: Letter

References (7)

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